Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

Channelopathies, Genetic Disorder, Genetics +5

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 · 984 citations

Neuronal Sodium Channel, Channelopathies, Molecular Neuroscience +11

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

Maurizio De Fusco, Roberto Marconi, Laura Silvestri et al. · Nature Genetics · 2003 · 939 citations

Molecular Neuroscience, Molecular Physiology, Neurophysiology +10

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

Martin Dichgans, Tobias Freilinger, Gertrud Eckstein et al. · The Lancet · 2005 · 842 citations

Channelopathies, Neurophysiology, Neurotransmission +8

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

Anne Jouvenceau, L. H. Eunson, Alexander Spauschus et al. · The Lancet · 2001 · 383 citations

Channelopathies, Neurophysiology, Neuroanatomy +12