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Journal articles on the topic 'Familial hemiplegic migraine type-1'

Author: Grafiati

Published: 14 March 2023

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1

Schubert, Victoria, Eva Auffenberg, Saskia Biskup, Karin Jurkat-Rott, and Tobias Freilinger. "Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L." Cephalalgia 38, no. 8 (2017): 1503–8. http://dx.doi.org/10.1177/0333102417742365.

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Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far. In two familial hemiplegic migraine type 3 families, partial cosegregation with a rare eye phenotype (elicited repetitive daily blindness) was previously reported. Methods Two novel familial hemiplegic migraine pedigrees were subjected to genetic analysis and detailed work-up of associated clinical features. Results In both pedigrees, we identified SCN1A mutation p.F1499L, which has b

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Hansen, JM, LL Thomsen, J. Olesen, and M. Ashina. "Familial Hemiplegic Migraine Type 1 Shows no Hypersensitivity to Nitric Oxide." Cephalalgia 28, no. 5 (2008): 496–505. http://dx.doi.org/10.1111/j.1468-2982.2008.01559.x.

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Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways. Experimental studies have established that activation of the nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that CACNA1A mutations in patients with FHM-1 are associated with hypersensitivity to NO-cGMP pathwa

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Geerlings, Rianne PJ, Peter J. Koehler, Danielle YP Haane, et al. "Head tremor related to CACNA1A mutations." Cephalalgia 31, no. 12 (2011): 1315–19. http://dx.doi.org/10.1177/0333102411414442.

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Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1–3 mutation carriers, including epilepsy and cerebellar symptoms. Case report: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carr

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Thomsen, Lise L., Elsebet Ostergaard, Jes Olesen, and Michael B. Russell. "Evidence for a separate type of migraine with aura." Neurology 60, no. 4 (2003): 595–601. http://dx.doi.org/10.1212/01.wnl.0000046524.25369.7d.

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Objective: To compare clinical characteristics of patients with sporadic hemiplegic migraine (SHM) with those of patients with migraine with typical aura (MA) and patients with familial hemiplegic migraine (FHM).Methods: The authors used a computer search of Denmark’s National Patient Register to screen the population for patients with migraine with aura with motor weakness, and also examined case records from headache clinics and private practicing neurologists and placed advertisements. The authors screened patients and their relatives with a semi-structured validated telephone interview. Al

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Vries, Boukje de, Else Eising, Ludo AM Broos, et al. "RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice." Cephalalgia 34, no. 3 (2013): 174–82. http://dx.doi.org/10.1177/0333102413502736.

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Background Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiplegic migraine, cerebellar ataxia, seizures, and mild head trauma-induced brain edema. Transgenic knock-in (KI) migraine mouse models were generated that carried either the FHM1 R192Q or the S218L mutation and were shown to exhibit increased CaV2.1 channel activity. Here we investigated their cerebellar and caudal cortical transcriptome. Methods Caud

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Roth, Christian, Tobias Freilinger, Georgi Kirovski, et al. "Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene." Cephalalgia 34, no. 3 (2013): 183–90. http://dx.doi.org/10.1177/0333102413506128.

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Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemiplegic aura. Patients and methods We describe three unrelated families with familial hemiplegic migraine type II (FHM2). Retrospectively, information on 47 family members could be obtained, 15 by personal examination and 32 by indirect anamnesis from relatives. Genetic analyses were performed in 13 patients. Results One family had a novel missense mutation in the ATP1A2 gene (c.659C>T, p.Ser220Leu) that segregated with the phenotype in three generations. Two further unrelated families with diffe

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Podestà, Barbara, Eleonora Briatore, Andrea Boghi, Daniela Marenco, and Stefano Calzolari. "Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine." Cephalalgia 31, no. 14 (2011): 1497–502. http://dx.doi.org/10.1177/0333102411418260.

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Objective: To study the link between nonverbal learning disorder and right cerebral hemisphere dysfunction due to migraine attack in a case of Familial Hemiplegic Migraine. Background: Familial Hemiplegic Migraine can cause neuropsychological deficits besides the motor ones. The nonverbal learning disorder is thought to be caused by a right hemisphere dysfunction. Methods: We describe a child with Familial Hemiplegic Migraine type 2 who showed a transient neuropsychological impairment featuring a nonverbal learning disorder during and after a Hemiplegic migraine attack. Results: Clinical and n

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Bruun, Marie, Lena Elisabeth Hjermind, Carsten Thomsen, et al. "Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report." Case Reports in Neurology 7, no. 1 (2015): 84–89. http://dx.doi.org/10.1159/000381827.

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Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkins

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McNAMARA, DAMIAN. "Triggers Similar in Familial Hemiplegic Migraine." Clinical Psychiatry News 39, no. 9 (2011): 21. http://dx.doi.org/10.1016/s0270-6644(11)70355-1.

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Martínez, E., R. Moreno, L. López-Mesonero, et al. "Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/3464285.

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Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fev

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Tang, Wenjing, Meichen Zhang, Enchao Qiu, et al. "A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2." Cephalalgia 39, no. 11 (2019): 1382–95. http://dx.doi.org/10.1177/0333102419847738.

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Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor

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Liu, Changyue, and Wei Yue. "The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review." Clinical and Translational Neuroscience 6, no. 4 (2022): 25. http://dx.doi.org/10.3390/ctn6040025.

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Familial hemiplegic migraine type 2 is a premonitory subtype of migraine caused by an ATP1A2 gene mutation. It is an autosomal dominant genetic disease. Here, we report a 51-year-old woman who had a migraine attack due to a pathogenic ATP1A2 gene mutation. With frequent attacks, the patient developed complete left hemiplegia, a confusion of consciousness and partial seizures. Magnetic resonance imaging showed extensive angiogenic edema in the right cerebral hemisphere. In this article, we review the latest literature and try to explain the above symptoms in our patient with cortical spreading

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Eikermann-Haerter, K., I. Yuzawa, T. Qin, et al. "Enhanced Subcortical Spreading Depression in Familial Hemiplegic Migraine Type 1 Mutant Mice." Journal of Neuroscience 31, no. 15 (2011): 5755–63. http://dx.doi.org/10.1523/jneurosci.5346-10.2011.

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Zhang, Yang, Ning Chen, Muke Zhou, Jian Guo, Jiang Guo, and Li He. "A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report." Cephalalgia 37, no. 13 (2016): 1294–98. http://dx.doi.org/10.1177/0333102416677049.

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Background Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. Results All FHM patients in the investigate

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Loonen, Inge C. M., Isabelle Kohler, Mohan Ghorasaini, et al. "Changes in Plasma Lipid Levels Following Cortical Spreading Depolarization in a Transgenic Mouse Model of Familial Hemiplegic Migraine." Metabolites 12, no. 3 (2022): 220. http://dx.doi.org/10.3390/metabo12030220.

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Metabolite levels in peripheral body fluids can correlate with attack features in migraine patients, which underscores the potential of plasma metabolites as possible disease biomarkers. Migraine headache can be preceded by an aura that is caused by cortical spreading depolarization (CSD), a transient wave of neuroglial depolarization. We previously identified plasma amino acid changes after CSD in familial hemiplegic migraine type 1 (FHM1) mutant mice that exhibit increased neuronal excitability and various migraine-related features. Here, we aimed to uncover lipid metabolic pathways affected

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Uchitel, Osvaldo D., Carlota González Inchauspe, and Mariano N. Di Guilmi. "Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models." Biophysical Reviews 6, no. 1 (2013): 15–26. http://dx.doi.org/10.1007/s12551-013-0126-y.

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Eikermann-Haerter, Katharina, Michael J. Baum, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Michael A. Moskowitz, and Cenk Ayata. "Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice." Annals of Neurology 66, no. 4 (2009): 564–68. http://dx.doi.org/10.1002/ana.21779.

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Pelzer, Nadine, Joost Haan, Anine H. Stam, et al. "Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation." Neurology 90, no. 7 (2018): e575-e582. http://dx.doi.org/10.1212/wnl.0000000000004966.

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ObjectiveTo investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A, ATP1A2, or SCN1A differ, and whether the disease may be caused by mutations in other genes.MethodsWe compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in CACNA1A, ATP1A2, or SCN1A with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes. In addition, 47 patients (familial: n = 33; sporadic:

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Barrett, Curtis F., Yu-Qing Cao, and Richard W. Tsien. "Gating Deficiency in a Familial Hemiplegic Migraine Type 1 Mutant P/Q-type Calcium Channel." Journal of Biological Chemistry 280, no. 25 (2005): 24064–71. http://dx.doi.org/10.1074/jbc.m502223200.

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Barros, José, Alexandre Mendes, Ilda Matos, and José Pereira-Monteiro. "Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2)." Journal of Headache and Pain 13, no. 7 (2012): 581–85. http://dx.doi.org/10.1007/s10194-012-0462-5.

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Fusco, M. De, R. Marconi, L. Silvestri та ін. "Haploinsufficiency of АТР1А2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2 (Nat. Genet. — 2003. — FEB. — 33(2). — P. 192—196: англ.)". Neurology Bulletin XXXV, № 1-2 (2003): 79–80. http://dx.doi.org/10.17816/nb89682.

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The prevalence of migraine in Western countries shows 12% of the entire population. One of the hereditary forms of the disease is familial hemiplegic migraine of the second type, which clinically manifests an aura, paroxysm of headache and the development of transient hemiparesis during an attack.

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Iizuka, T., N. Tominaga, J. Kaneko, et al. "Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 3 (2014): 344–53. http://dx.doi.org/10.1136/jnnp-2014-307731.

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Hansen, JM, LL Thomsen, R. Marconi, G. Casari, J. Olesen, and M. Ashina. "Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine." Cephalalgia 28, no. 4 (2008): 367–75. http://dx.doi.org/10.1111/j.1468-2982.2008.01542.x.

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Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 μgkg−1 min−1 glyceryl trinitrate (GTN) over 20 min. We rec

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Tashiro, Yuichi, Tsuneo Yamazaki, Shun Nagamine, Yuji Mizuno, Adachi Yoshiki, and Koichi Okamoto. "Repeated Encephalopathy and Hemicerebral Atrophy in a Patient with Familial Hemiplegic Migraine Type 1." Internal Medicine 53, no. 19 (2014): 2245–50. http://dx.doi.org/10.2169/internalmedicine.53.0295.

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Dichgans, M., J. Herzog, T. Freilinger, M. Wilke, and D. P. Auer. "1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1." Neurology 64, no. 4 (2005): 608–13. http://dx.doi.org/10.1212/01.wnl.0000151855.98318.50.

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Thomsen, L. Lykke, M. Kirchmann Eriksen, S. Faerch Romer, et al. "An Epidemiological Survey of Hemiplegic Migraine." Cephalalgia 22, no. 5 (2002): 361–75. http://dx.doi.org/10.1046/j.1468-2982.2002.00371.x.

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The objective of the present study was to use systematic nation-wide case-finding methods to establish the prevalence and sex ratio of hemiplegic migraine (HM) in the entire Danish population of 5.2 million inhabitants. Affected patients were identified from three different recruitment sources: the National Patient Register, case records from private practising neurologists and advertisements. Based on the observed number of affected patients from each case-finding method, it was attempted to estimate the total number of affected patients by means of the statistical method known as capture- re

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Pelzer, Nadine, Anine H. Stam, Johannes A. Carpay, et al. "Familial hemiplegic migraine treated by sodium valproate and lamotrigine." Cephalalgia 34, no. 9 (2014): 708–11. http://dx.doi.org/10.1177/0333102413520086.

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Background Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura that includes motor auras. Prophylactic treatment of FHM often has marginal effects and involves a trial-and-error strategy based on therapeutic guidelines for non-hemiplegic migraine and on case reports in FHM. Methods We assessed the response to prophylactic medication in an FHM family and sequenced the FHM2 ATP1A2 gene in all available relatives. Results A novel p.Met731Val ATP1A2 mutation was identified. Attack frequency was reduced significantly with sodium valproate monotherapy ( n = 1) and at

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Karsan, Nazia, David Palethorpe, Ria Bhola, and Juana Marin, Peter Goadsby. "FLUNARIZINE IN PRIMARY HEADACHE DISORDERS." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (2015): e4.174-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.80.

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BackgroundFlunarizine is a widely used migraine preventive not licensed in the UK. In September 2014, the National Institute for Clinical Excellence (NICE) published supportive guidelines for flunarizine use in migraine based on available randomised controlled evidence.AimTo collect data for an audit of flunarizine use from our tertiary headache practice in the UK over twenty years, to try to establish indications for its use, typical doses, short and long term side effects, and treatment outcomes, including changes in acute treatment use and change in frequency and intensity of headache on tr

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Cuenca-León, E., R. Corominas, N. Fernàndez-Castillo, et al. "Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes." Cephalalgia 28, no. 10 (2008): 1039–47. http://dx.doi.org/10.1111/j.1468-2982.2008.01645.x.

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Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient

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Gardner, Kathy, M. Michael Barmada, Louis J. Ptacek, and Eric P. Hoffman. "A new locus for hemiplegic migraine maps to chromosome 1q31." Neurology 49, no. 5 (1997): 1231–38. http://dx.doi.org/10.1212/wnl.49.5.1231.

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A single familial hemiplegic migraine locus has been previously mapped to 19p13.1 and associated with mutations in a calcium channel gene (CACNL1A4). We describe a new 39-member four-generation family from Wyoming of German-Native American descent with autosomal dominant familial hemiplegic migraine that is not linked to the chromosome 19p locus. Affected individuals showed a stereotypic pattern of migrainous headache associated with hemisensory and hemiparetic attacks, without other headache types. Eighty-three percent reported minor head trauma as a trigger for individual attacks. Seventy-tw

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Müllner, Carmen, Ludo A. M. Broos, Arn M. J. M. van den Maagdenberg, and Jörg Striessnig. "Familial Hemiplegic Migraine Type 1 Mutations K1336E, W1684R, and V1696I Alter Cav2.1 Ca2+Channel Gating." Journal of Biological Chemistry 279, no. 50 (2004): 51844–50. http://dx.doi.org/10.1074/jbc.m408756200.

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Mutations in the Cav2.1 α1-subunit of P/Q-type Ca2+channels cause human diseases, including familial hemiplegic migraine type-1 (FHM1). FHM1 mutations alter channel gating and enhanced channel activity at negative potentials appears to be a common pathogenetic mechanism. Different β-subunit isoforms (primarily β4and β3) participate in the formation of Cav2.1 channel complexes in mammalian brain. Here we investigated not only whether FHM1 mutations K1336E (KE), W1684R (WR), and V1696I (VI) can affect Cav2.1 channel function but focused on the important question whether mutation-induced changes

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Suzuki, Masanobu, Keishi Fujiwara, Takashi Tsubuku, Ichiro Yabe, Hidenao Sasaki, and Satoshi Fukuda. "Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide." Journal of the Neurological Sciences 368 (September 2016): 206–8. http://dx.doi.org/10.1016/j.jns.2016.07.020.

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Riant, Florence, Caroline Roos, Agathe Roubertie, et al. "Hemiplegic Migraine Associated With PRRT2 Variations." Neurology 98, no. 1 (2021): e51-e61. http://dx.doi.org/10.1212/wnl.0000000000012947.

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Background and ObjectivePRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.MethodsPRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed.ResultsPRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A, ATP1A2, and SCN1A variations

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Kowalska, Marta, Michał Prendecki, Thomas Piekut, Wojciech Kozubski, and Jolanta Dorszewska. "Migraine: Calcium Channels and Glia." International Journal of Molecular Sciences 22, no. 5 (2021): 2688. http://dx.doi.org/10.3390/ijms22052688.

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Migraine is a common neurological disease that affects about 11% of the adult population. The disease is divided into two main clinical subtypes: migraine with aura and migraine without aura. According to the neurovascular theory of migraine, the activation of the trigeminovascular system (TGVS) and the release of numerous neuropeptides, including calcitonin gene-related peptide (CGRP) are involved in headache pathogenesis. TGVS can be activated by cortical spreading depression (CSD), a phenomenon responsible for the aura. The mechanism of CSD, stemming in part from aberrant interactions betwe

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Tao, Jin, Ping Liu, Zheman Xiao, Hucheng Zhao, Benjamin R. Gerber, and Yu-Qing Cao. "Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons." Journal of Neurophysiology 107, no. 6 (2012): 1666–80. http://dx.doi.org/10.1152/jn.00551.2011.

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Familial hemiplegic migraine type 1 (FHM-1), a rare hereditary form of migraine with aura and hemiparesis, serves as a good model for exploring migraine pathophysiology. The FHM-1 gene encodes the pore-forming CaV2.1 subunit of human P/Q-type voltage-gated Ca2+ channels (VGCCs). Some FHM-1 mutations result in a decrease of whole cell P/Q-type current density in transfected cells/neurons. Questions remain as to whether and how these mutations may increase the gain of the trigeminal nociceptive pathway underlying migraine headache. Here, we investigated the effects of T666M, the most frequently

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Li, Dana, Anne F. Christensen, and Jes Olesen. "Field-testing of the ICHD-3 beta/proposed ICD-11 diagnostic criteria for migraine with aura." Cephalalgia 35, no. 9 (2014): 748–56. http://dx.doi.org/10.1177/0333102414559731.

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Introduction In 2013 the International Headache Society published the third International Classification of Headache Disorders beta-version, ICHD-3 beta. Its structure is identical to that of the present proposed version of the International Classification of Diseases (ICD-11), although slightly abbreviated to fulfill the needs of ICD-11. In the following, only ICHD-3 beta is mentioned, but findings regarding the validity of ICHD-3 beta categories are equally relevant to the forthcoming ICD-11. Here we field-tested the criteria for 1.2 migraine with aura (MA), 1.2.1 migraine with typical aura

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Indelicato, Elisabetta, Wolfgang Nachbauer, Andreas Eigentler, et al. "Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment." Cephalalgia 38, no. 6 (2017): 1167–76. http://dx.doi.org/10.1177/0333102417715229.

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Background Familial hemiplegic migraine (FHM) is a rare, genetic form of migraine with aura. The severity of the aura imposes an effective prophylaxis that is currently based on standard anti-migraine drugs. To this concern, only short-term reports are currently available. Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. Medical history, general and neurological examination as well as therapeutic approaches were recorded regularly on a routine basis for an average period of 13 years

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Smeets, MC, CB Vernooy, JHM Souverijn, and MD Ferrari. "Intracellular and Plasma Magnesium in Familial Hemiplegic Migraine and Migraine With and Without Aura." Cephalalgia 14, no. 1 (1994): 29–32. http://dx.doi.org/10.1046/j.1468-2982.1994.1401029.x.

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Familial hemiplegic migraine (FHM) is an autosomal dominant type of migraine and probably represents the most extreme end of migraine with aura. Reduced magnesium facilitates the development of spreading depression and possibly aura. Cellular magnesium levels are under genetic control. We hypothesized that FHM patients would have significantly reduced intracellular magnesium levels. We determined intracellular and plasma magnesium levels in blood of 38 afflicted and 11 non-afflicted members of three families with FHM and, in 32 migraine patients (9 with and 23 without aura) and 32 age and sex

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Garza-López, Edgar, Ricardo González-Ramírez, María A. Gandini, Alejandro Sandoval, and Ricardo Felix. "The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels." Cephalalgia 33, no. 6 (2013): 398–407. http://dx.doi.org/10.1177/0333102412475236.

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Background Familial hemiplegic migraine type 1 (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and ataxia. FHM-1 has been linked to missense mutations in the CACNA1A gene encoding the pore-forming subunit of the neuronal voltage-gated P/Q-type Ca2+ channel (CaV2.1α1). Methods Here, we explored the effects of the FHM-1 K1336E mutation on G protein-dependent modulation of the recombinant P/Q-type channel. The mutation was introduced into the human CaV2.1α1 subunit and its functional consequences investigated after heterologous expressi

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Roth, Christian, Andreas Ferbert, Monika Huegens-Penzel, Ralf Siekmann, and Tobias Freilinger. "Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2." Journal of the Neurological Sciences 392 (September 2018): 22–27. http://dx.doi.org/10.1016/j.jns.2018.06.019.

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Blicher, Jakob Udby, Anna Tietze, Manus J. Donahue, Seth A. Smith, and Leif Østergaard. "Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura." Cephalalgia 36, no. 3 (2015): 279–83. http://dx.doi.org/10.1177/0333102415586064.

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Introduction To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques. Case results A 44-year-old male was admitted with suspected stroke because of confusion and aphasia. Initial gadolinium-based perfusion MRI showed a decrease in cerebral blood flow and an increase in capillary flow disturbances within the left hemisphere. Later during the prolonged aura phase, chemical exchange saturation transfer MRI indicated a drop in pH in the affected area. The patient was dia

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Lombardo, Salvo, Emanuela Mazzon, Maria Basile, et al. "Upregulation of IL-1 Receptor Antagonist in a Mouse Model of Migraine." Brain Sciences 9, no. 7 (2019): 172. http://dx.doi.org/10.3390/brainsci9070172.

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Migraine is a disorder characterized by attacks of monolateral headaches, often accompanied by nausea, vomiting, and photophobia. Around 30% of patients also report aura symptoms. The cause of the aura is believed to be related to the cortical spreading depression (CSD), a wave of neuronal and glial depolarization originating in the occipital cortex, followed by temporary neuronal silencing. During a migraine attack, increased expression of inflammatory mediators, along with a decrease in the expression of anti-inflammatory genes, have been observed. The aim of this study was to evaluate the e

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Mathew, Rammya, Anna P. Andreou, Linda Chami, et al. "Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse." Cephalalgia 31, no. 13 (2011): 1368–80. http://dx.doi.org/10.1177/0333102411418847.

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Introduction: Familial hemiplegic migraine type 1 (FHM-1) is caused by mutations in the CACNA1A gene, with the R192Q mutation being the most common. Elevated calcitonin gene-related peptide (CGRP) levels in acute migraine and clinical trials using CGRP receptor antagonists suggest CGRP-related mechanisms are important in migraine. Methods: Wild-type and R192Q knock-in mice were anaesthetized and perfused. Using immunohistochemical staining, the expression of CGRP in the trigeminocervical complex (TCC) and in the trigeminal and dorsal root ganglia was characterized. Results: There was a 38% red

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Pierelli, F., GS Grieco, F. Pauri, et al. "A Novel ATP1A2 Mutation in a Family with FHM Type II." Cephalalgia 26, no. 3 (2006): 324–28. http://dx.doi.org/10.1111/j.1468-2982.2006.01002.x.

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Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause

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Kraus, Richard L., Martina J. Sinnegger, Alexandra Koschak, et al. "Three New Familial Hemiplegic Migraine Mutants Affect P/Q-type Ca2+Channel Kinetics." Journal of Biological Chemistry 275, no. 13 (2000): 9239–43. http://dx.doi.org/10.1074/jbc.275.13.9239.

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Marconi, Roberto, Maurizio De Fusco, Paolo Aridon, et al. "Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23." Annals of Neurology 53, no. 3 (2003): 376–81. http://dx.doi.org/10.1002/ana.10464.

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Luan, Huiyan, Lei Zhang, Sijin Zhang, and Meng Zhang. "Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree." Medicine 100, no. 51 (2021): e28141. http://dx.doi.org/10.1097/md.0000000000028141.

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Kaja, Simon, Rob C. G. Van de Ven, Ludo A. M. Broos, et al. "Severe and Progressive Neurotransmitter Release Aberrations in Familial Hemiplegic Migraine Type 1 Cacna1a S218L Knock-in Mice." Journal of Neurophysiology 104, no. 3 (2010): 1445–55. http://dx.doi.org/10.1152/jn.00012.2010.

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Familial hemiplegic migraine type 1 (FHM1) is caused by mutations in the CACNA1A gene, encoding neuronal presynaptic CaV2.1 (P/Q-type) Ca2+ channels. These channels mediate neurotransmitter release at many central synapses and at the neuromuscular junction (NMJ). Mutation S218L causes a severe neurological phenotype of FHM and, additionally, ataxia and susceptibility to seizures, delayed brain edema, and fatal coma after minor head trauma. Recently, we generated a Cacna1a S218L knock-in mutant mouse, displaying these features and reduced survival. A first electrophysiological study showed high

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Shyti, Reinald, Katharina Eikermann-Haerter, Sandra H. van Heiningen, et al. "Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice." Experimental Neurology 263 (January 2015): 214–20. http://dx.doi.org/10.1016/j.expneurol.2014.10.015.

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Eikermann-Haerter, Katharina, Michal Arbel-Ornath, Nilufer Yalcin, et al. "Abnormal synaptic Ca2+homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice." Annals of Neurology 78, no. 2 (2015): 193–210. http://dx.doi.org/10.1002/ana.24449.

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