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1

Daniels, Dee, Kelly Knupp, Tim Benke, Kristine Wolter-Warmerdam, Maura Moran, and Fran Hickey. "Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response." Global Pediatric Health 6 (January 2019): 2333794X1882193. http://dx.doi.org/10.1177/2333794x18821939.

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Objectives. To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Methods. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Results. Mean age at diagnosis was 9.16 months, with an average 1.38-month lag from spasms onset to start of medication. Prevalence of heart defects and pulmonary hyp
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2

Villegas, M., J. Murray, and E. Sell. "P.058 Ketogenic diet for medication refractory infantile spasms in patients with Down syndrome: experience at the Children’s Hospital of Eastern Ontario." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 52, s1 (2025): S30. https://doi.org/10.1017/cjn.2025.10229.

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Background: Ketogenic diet can be an effective alternative therapy for medication refractory infantile spasms. Infantile spasms are more prevalent in children with Down syndrome compared with the general population and often medication refractory. Methods: Charts of infants who presented to the Children’s Hospital of Eastern Ontario with Down syndrome and refractory infantile spams treated with ketogenic diet from 2012 to 2025 were reviewed. Clinical response defined by cessation of epileptic spasms and resolution of hypsarrhythmia. Diet ratio,tolerance, side effects, concomitant medications,
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3

Caraballo, Roberto Horacio, Victor Ruggieri, Gabriel Gonzalez, et al. "Infantile spams without hypsarrhythmia: A study of 16 cases." Seizure 20, no. 3 (2011): 197–202. http://dx.doi.org/10.1016/j.seizure.2010.11.018.

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4

Peiwei Zhao, Xuehua Peng, Sukun Luo, et al. "Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams." neurogenetics 21, no. 2 (2020): 97–104. http://dx.doi.org/10.1007/s10048-019-00590-5.

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5

Harini, Chellamani, Sonal Sharda, Ann Marie Bergin, et al. "Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms." Journal of Child Neurology 33, no. 6 (2018): 405–12. http://dx.doi.org/10.1177/0883073818760424.

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Purpose: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. Methods: A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. Results: MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics. Both developmental and acquired subgroups exhibited cortical gray and/or white
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6

Srinivas, Sujithra. "Infantile spasm: A review on the severity of epileptic encephalopathy." IP Indian Journal of Neurosciences 8, no. 1 (2022): 16–20. http://dx.doi.org/10.18231/j.ijn.2022.004.

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Infantile spasm (IS) comprises of both an age dependent epileptic seizure and distinctive seizure Onset in infants. In the recent past the key observation in classification and standardization of infantile spasm has culminated many recommendations in distinguishing and recognizing the seizure type and the epileptic syndrome or the West syndrome. The Infantile spasm is an early onset epileptic encephalopathy which presents unique electrographic and clinical features, these features are found in children in the middle of the first year of their birth .However the pathophysiology and the heteroge
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7

Malavika Gopi, Akshaya Suresh, Anandu H, Roshni P R, Mamatha M R, and Vinayan K P. "West syndrome - epileptic encephalopathy at early infancy." International Journal of Research in Pharmaceutical Sciences 11, no. 4 (2020): 7492–94. http://dx.doi.org/10.26452/ijrps.v11i4.3951.

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West syndrome (WS), synonymously infantile spasm or epileptic spasm, is a rare type of epileptic encephalopathy occurring at early infancy that exists with variable life expectancy. It is the most common form of epileptic encephalopathy. WS presents with spasms marked by extensor or mixed movements with distinct electroencephalogram (EEG) pattern of hypsarrhythmia, flexor and psychomotor arrest. Children with west syndrome always depict abnormal EEG, but sometimes the abnormality is seen only during sleep. The incidence of infantile spasms is found closer to 1 in 2,000 children, that typically
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8

Malavika Gopi, Akshaya Suresh, Anandu H, Roshni P R, Mamatha M R, and Vinayan K P. "West syndrome - epileptic encephalopathy at early infancy." International Journal of Research in Pharmaceutical Sciences 11, no. 4 (2020): 7492–94. http://dx.doi.org/10.26452/ijrps.v11i4.3951.

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West syndrome (WS), synonymously infantile spasm or epileptic spasm, is a rare type of epileptic encephalopathy occurring at early infancy that exists with variable life expectancy. It is the most common form of epileptic encephalopathy. WS presents with spasms marked by extensor or mixed movements with distinct electroencephalogram (EEG) pattern of hypsarrhythmia, flexor and psychomotor arrest. Children with west syndrome always depict abnormal EEG, but sometimes the abnormality is seen only during sleep. The incidence of infantile spasms is found closer to 1 in 2,000 children, that typically
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9

Haines, Stuart T., and Daniel T. Casto. "Treatment of Infantile Spasms." Annals of Pharmacotherapy 28, no. 6 (1994): 779–91. http://dx.doi.org/10.1177/106002809402800616.

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OBJECTIVE: To summarize and evaluate the literature regarding the clinical features, epidemiology, etiology, pathophysiology, and treatment of infantile spasms. DATA SOURCES: A literature search of articles from January 1966 to July 1993 using MEDLINE, EM-Base, and Current Concepts/Life Sciences, as well as bibliographies of relevant articles. STUDY SELECTION: All identified original and review publications regarding the clinical features, epidemiology, etiology, pathophysiology, and treatment of infantile spasms were reviewed. Emphasis was placed on original studies published since 1975. DATA
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10

Wang, Ling, Shannon Yarosz, Hosain Aghamoosa, Zachary Grinspan, and Anup D. Patel. "Validating an Algorithm to Identify Patients With Infantile Spasms Using Medical Claims." Journal of Child Neurology 33, no. 10 (2018): 639–41. http://dx.doi.org/10.1177/0883073818774960.

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An infantile spasm is a brief seizure type that is characteristic of West syndrome. Many infants present with infantile spasms between 3-12 months of age. Early diagnosis and proper treatment of patients with infantile spasms can lead to improved clinical outcomes. However, proper identification of these patients using claims data with validation has not been performed. The authors developed and tested several algorithms using claims data. Claims data consisted of using International Classification of Disease (ICD), Current Procedural Terminology (CPT), and prescription codes. Access to the cl
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11

Armstrong, Dallas, and Rana R. Said. "Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21." Journal of Child Neurology 34, no. 11 (2019): 646–52. http://dx.doi.org/10.1177/0883073819850650.

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Objective: We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. Methods: Patients with infantile spasms were identified via the neurophysiology database. Charts were reviewed with attention to infantile spasms diagnosis, presence of trisomy 21, age of reported clinical onset, treatment lag, treatments used, response to treatment, imaging fin
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12

Subedi, Kiran, Rydam Basnet, Bikash Bhandari, Sonsy Gongal, and Ashik Rajak. "West syndrome - Diagnostic dilemma in a month old infant without typical electroencephalographic features: A case report." Journal of Kathmandu Medical College 8, no. 2 (2019): 116–17. http://dx.doi.org/10.3126/jkmc.v8i2.28175.

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Infantile spasm constitutes 2% of childhood epilepsies but 25% of epilepsy with onset in the first year of life. The rate of infantile spasm is estimated to be 2.5-6.0 cases per 10,000 live births. Its prevalence rate is 1.5-2.0 cases per 10,000 children aged 10 years or younger. Ninety percent of infantile spasms begin in infants younger than 12 months with a peak onset at age 4-6 months. 
 We report a case of 45 days old male child who had onset of flexor spasms since one month of age which is an unusual age of onset of West syndrome. The symptoms were initially thought as a simple star
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13

Ghossein, J., and D. Pohl. "P.052 Benign spasms of infancy - a mimicker of infantile epileptic disorders." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s1 (2019): S28. http://dx.doi.org/10.1017/cjn.2019.152.

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Background: Benign spasms of infancy (BSI), previously described as benign non-epileptic infantile spasms or benign myoclonus of early infancy, are non-epileptic movements manifesting during the first year of life and spontaneously resolving in the second year of life. BSI are characterized by spasms typically lasting 1-2 seconds, involving to varying degrees the head, neck, trunk, shoulders and upper extremities. Ictal and interictal EEG recordings are normal. BSI are not associated with developmental retardation and do not require treatment. Distinction between BSI and infantile epileptic di
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14

Ghossein, Jamie, and Daniela Pohl. "Benign spasms of infancy: a mimicker of infantile epileptic disorders*." Epileptic Disorders 21, no. 6 (2019): 585–89. http://dx.doi.org/10.1684/epd.2019.1116.

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ABSTRACT Benign spasms of infancy (BSI), previously described as benign non‐epileptic infantile spasms or benign myoclonus of early infancy, are non‐epileptic movements manifesting during the first year of life and spontaneously resolving in the second year of life. BSI are characterized by spasms typically lasting 1–2 seconds, involving, to varying degrees, the head, neck, trunk, shoulders and upper extremities. Ictal and interictal EEG recordings are normal. BSI are not associated with developmental regression and do not require treatment. Distinction between BSI and infantile epileptic diso
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15

Hrachovy, R. A., and J. D. Frost. "Infantile spasms." Cleveland Clinic Journal of Medicine 56, Supplement (1989): S—10—S—16. http://dx.doi.org/10.3949/ccjm.56.s1.10.

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16

Millichap, J. Gordon. "Infantile Spasms." Pediatric Neurology Briefs 2, no. 3 (1988): 21. http://dx.doi.org/10.15844/pedneurbriefs-2-3-8.

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17

Zupanc, Mary L. "Infantile spasms." Expert Opinion on Pharmacotherapy 4, no. 11 (2003): 2039–48. http://dx.doi.org/10.1517/14656566.4.11.2039.

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18

Hrachovy, Richard A., and James D. Frost. "Infantile Spasms." Pediatric Clinics of North America 36, no. 2 (1989): 311–29. http://dx.doi.org/10.1016/s0031-3955(16)36651-2.

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19

Bobele, Gary B., and John B. Bodensteiner. "Infantile Spasms." Neurologic Clinics 8, no. 3 (1990): 633–45. http://dx.doi.org/10.1016/s0733-8619(18)30339-6.

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20

Mandelbaum, David E. "INFANTILE SPASMS." Neurologist 6, no. 5 (2000): 298–301. http://dx.doi.org/10.1097/00127893-200006050-00005.

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21

Wong, Michael, and Edwin Trevathan. "Infantile spasms." Pediatric Neurology 24, no. 2 (2001): 89–98. http://dx.doi.org/10.1016/s0887-8994(00)00238-1.

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22

Smith, LindsayJ. "Infantile spasms." Lancet 339, no. 8786 (1992): 189. http://dx.doi.org/10.1016/0140-6736(92)90263-3.

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23

Moffat, Caroline S. "Infantile spasms." Neurology 90, no. 23 (2018): 1073–74. http://dx.doi.org/10.1212/wnl.0000000000005635.

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24

Kossoff, Eric H. "Infantile Spasms." Neurologist 16, no. 2 (2010): 69–75. http://dx.doi.org/10.1097/nrl.0b013e3181d1416c.

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25

Haller, Jerome S., and William D. Singer. "Infantile Spasms." Developmental Medicine & Child Neurology 24, no. 1 (2008): 91–92. http://dx.doi.org/10.1111/j.1469-8749.1982.tb13592.x.

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26

Chugani, Harry T. "Infantile spasms." Current Opinion in Neurology 8, no. 2 (1995): 139–44. http://dx.doi.org/10.1097/00019052-199504000-00010.

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27

Appleton, R. E. "Infantile spasms." Archives of Disease in Childhood 69, no. 5 (1993): 614–18. http://dx.doi.org/10.1136/adc.69.5.614.

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28

Glaze, Daniel G., and Thomas E. Zion. "Infantile spasms." Current Problems in Pediatrics 15, no. 11 (1985): 6–39. http://dx.doi.org/10.1016/0045-9380(85)90007-6.

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29

Zupanc, Mary L. "Infantile spasms." Current Treatment Options in Neurology 3, no. 3 (2001): 289–300. http://dx.doi.org/10.1007/s11940-001-0009-6.

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30

Carmant, Lionel. "Infantile Spasms." Archives of Neurology 59, no. 2 (2002): 317. http://dx.doi.org/10.1001/archneur.59.2.317.

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31

Dreifuss, Fritz. "Infantile Spasms." Archives of Neurology 43, no. 11 (1986): 1107. http://dx.doi.org/10.1001/archneur.1986.00520110007005.

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32

Messer, Ricka, and Kelly G. Knupp. "Infantile Spasms: Opportunities to Improve Care." Seminars in Neurology 40, no. 02 (2020): 236–45. http://dx.doi.org/10.1055/s-0040-1705121.

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AbstractInfantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocor
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33

Nahar Sumi, Most Samsun, Razia Sultana, Sufia Khatun, et al. "Clinical and Electroencephalographic Pattern and Short-Term Outcome to Treatment in Infantile Spasm: A Randomized Controlled Trial." Journal of National Institute of Neurosciences Bangladesh 8, no. 2 (2023): 130–35. http://dx.doi.org/10.3329/jninb.v8i2.63747.

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Background: Infantile spasms (epileptic spasm) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children mostly in the middle of the first year of life.
 Objective: The aim of this study was to evaluate the clinical and electroencephalographic profile and short-term outcome in infantile spasm.
 Methodology: This was a randomized controlled trial study done in Department of Pediatric Neurology, National Institute of Neuroscience & Hospital, Dhaka, Bangladesh. The patient of infantile spasm aged 2 months to 2 years were enrolled in the
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34

Pavone, Piero, Agata Polizzi, Simona Domenica Marino, et al. "West syndrome: a comprehensive review." Neurological Sciences 41, no. 12 (2020): 3547–62. http://dx.doi.org/10.1007/s10072-020-04600-5.

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Abstract Since its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associa
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35

Jahan, Anisa, and Dilara Begum. "Seizure Outcome in Children with Infantile Spasm." Bangladesh Medical Research Council Bulletin 47, no. 3 (2022): 244–49. https://doi.org/10.3329/bmrcb.v47i3.59236.

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Background: Infantile Spasm (IS) is a unique age specific epileptic encephalopathy of infancy leading to uncontrolled seizures and mental retardation. Corticosteroid and adrenocorticotropin have long been used in the treatment of infantile spasm. Vigabatrin (VGB), a suicidal inhibitor of GABA transaminase, was found to be very effective in the control of spasms. Other drugs have uncertain efficacy in controlling seizure.Objective: To assess the seizure outcome in children with infantile spasm after treatment.Methods: This observational study was done in a specialised paediatric neurology clini
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36

Millichap, J. Gordon. "Asymmetric Infantile Spasms." Pediatric Neurology Briefs 9, no. 9 (1995): 67. http://dx.doi.org/10.15844/pedneurbriefs-9-9-5.

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37

Ursic, A., B. Rešić, J. Resić, M. Tomasović, and R. Samija-Kuzmanic. "Unilateral infantile spasm." European Journal of Paediatric Neurology 12 (May 2008): S36. http://dx.doi.org/10.1016/s1090-3798(08)70117-x.

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38

Sumi, Samsun Nahar, Banita Mistry, Md Ahsan Habib, Mahua Chandra, Seikh Azimul Hoque, and Narayan Chandra Saha. "Efficacy of Combined Therapy of ACTH plus Vigabatrin Compared to ACTH Alone for Treatment of Infantile Spasm-A RCT." Bangladesh Journal of Child Health 46, no. 1 (2023): 14–18. http://dx.doi.org/10.3329/bjch.v46i1.70008.

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Background: Infantile spasms (epileptic spasm) is difficult to treat and has a high morbidity. So it’s crucial to initiate an early effective therapy. ACTH, Prednisolone and Vigabatrin have shown better efficacy on cessation of spasms.
 Objective: To compare the efficacy and tolerability of combined ACTH and Vigabatrin with ACTH alone in treatment of infantile spasms.
 Materials & Methods: This randomized controlled trial was conducted from June, 2017 to June, 2018 at outdoor and indoor, department of Paediatric Neurology of National Institute of Neurosciences and Hospital, Dhaka
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39

Alsallumi, Mohammed. "Hypsarrhythmia and spasms resolution after Valproic acid discontinuation in an infantile spasm patient." Neurosciences 24, no. 4 (2019): 311–14. http://dx.doi.org/10.17712/nsj.2019.4.20190026.

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40

Nasreen, Ali. "Infantile Spasm-Rare Presentation of “Vitamin B12 Encephalopathy”." Journal of Medical Science And clinical Research 05, no. 05 (2017): 21583–86. http://dx.doi.org/10.18535/jmscr/v5i5.56.

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41

Pesaturo, Kimberly A., Linda M. Spooner, and Paul Belliveau. "Vigabatrin for Infantile Spasms." Pharmacotherapy 31, no. 3 (2011): 298–311. http://dx.doi.org/10.1592/phco.31.3.298.

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42

Millichap, J. Gordon. "Vigabatrin for Infantile Spasms." Pediatric Neurology Briefs 13, no. 8 (1999): 62. http://dx.doi.org/10.15844/pedneurbriefs-13-8-9.

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43

Millichap, J. Gordon. "Infantile Spasms Consensus Report." Pediatric Neurology Briefs 24, no. 12 (2010): 92. http://dx.doi.org/10.15844/pedneurbriefs-24-12-4.

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44

Millichap, J. Gordon. "Methysergide and Infantile Spasms." Pediatric Neurology Briefs 3, no. 11 (1989): 84. http://dx.doi.org/10.15844/pedneurbriefs-3-11-6.

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45

Millichap, J. Gordon. "Treatment of Infantile Spasms." Pediatric Neurology Briefs 4, no. 6 (1990): 45. http://dx.doi.org/10.15844/pedneurbriefs-4-6-7.

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46

Millichap, J. Gordon. "ACTH in Infantile Spasms." Pediatric Neurology Briefs 4, no. 9 (1990): 69. http://dx.doi.org/10.15844/pedneurbriefs-4-9-7.

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47

Millichap, J. Gordon. "Prognosis of Infantile Spasms." Pediatric Neurology Briefs 7, no. 12 (1993): 93. http://dx.doi.org/10.15844/pedneurbriefs-7-12-7.

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48

Millichap, J. Gordon. "Pathophysiology of Infantile Spasms." Pediatric Neurology Briefs 7, no. 4 (1993): 32. http://dx.doi.org/10.15844/pedneurbriefs-7-4-12.

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49

Millichap, J. Gordon. "Theophylline-Induced Infantile Spasms." Pediatric Neurology Briefs 9, no. 3 (1995): 18. http://dx.doi.org/10.15844/pedneurbriefs-9-3-3.

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50

Millichap, J. Gordon. "X-Linked Infantile Spasms." Pediatric Neurology Briefs 11, no. 10 (1997): 78. http://dx.doi.org/10.15844/pedneurbriefs-11-10-10.

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