Concepedia

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe

The American Journal of Human Genetics · 2001 · 1.3K citations · 12 references

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12

Proposal for Revised Classification of Epilepsies and Epileptic Syndromes

Epilepsia · 1989 · 5.4K citations

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +11

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics · 2000 · 988 citations

, , +12

The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways

Armen N. Akopian, Veronika Souslova, Steven England et al. · Nature Neuroscience · 1999 · 808 citations

, , +14

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

Ingrid E. Scheffer · Brain · 1997 · 749 citations · Full text

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