Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

Autor:	Emily W.Y. Tam, Laurence Gauquelin, Cynthia Hawkins, Grace Yoon, Steven P. Miller
Rok vydání:	2020
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Fever Brain Edema Methylprednisolone Variable Expression 03 medical and health sciences Fatal Outcome Ocular Motility Disorders 0302 clinical medicine Atrophy medicine Humans 030212 general & internal medicine Familial hemiplegic migraine business.industry Brain edema Episodic ataxia type 2 Brain medicine.disease Dermatology Child Preschool Spinocerebellar ataxia Consciousness Disorders Muscle Hypotonia Female Related disorder Calcium Channels Neurology (clinical) business Complication 030217 neurology & neurosurgery
Zdroj:	Neurology. 94:631-634
ISSN:	1526-632X 0028-3878
Popis:	Heterozygous pathogenic variants in CACNA1A are associated with 3 classic phenotypes, with variable expression and significant overlap: familial hemiplegic migraine 1, spinocerebellar ataxia 6, and episodic ataxia type 2.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9f7bd78ab83dc63664efddb0beca359 https://doi.org/10.1212/wnl.0000000000009223 Zobrazit plný text záznamu