The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
Sturge-Weber Syndrome
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Recurrent Cerebral Ischemia During Pregnancies
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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