Academic literature on the topic 'Familial hemiplegic migraine type-1'

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

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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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