Genotype―phenotype associations in SCN1A-related epilepsies

Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome. Our objective was to examine whether the nature of a SCN1A mutation affects the epilepsy...

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Veröffentlicht in:	Neurology 2011-02, Vol.76 (7), p.594-600
Hauptverfasser:	ZUBERI, S. M, BRUNKLAUS, A, BIRCH, R, REAVEY, E, DUNCAN, J, FORBES, G. H
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Cohort Studies Epilepsy, Generalized - complications Epilepsy, Generalized - genetics Genetic Association Studies Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Medical sciences Mutation - genetics NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins - genetics Nervous system (semeiology, syndromes) Neurology Retrospective Studies Seizures, Febrile - complications Seizures, Febrile - genetics Sodium Channels - genetics Statistics, Nonparametric
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