Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
Annesi
Grazia
G
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Gambardella
Antonio
A
Carrideo
Sara
S
Incorpora
Gemma
G
Labate
Angelo
A
Pasqua
Angela Aurora
AA
Civitelli
Donatella
D
Polizzi
Agata
A
Annesi
Ferdinanda
F
Spadafora
Patrizia
P
Tarantino
Patrizia
P
Cirò Candiano
Innocenza C
IC
Romeo
Nelide
N
De Marco
Elvira Valeria
EV
Ventura
Patrizia
P
LePiane
Emilio
E
Zappia
Mario
M
Aguglia
Umberto
U
Pavone
Lorenzo
L
Quattrone
Aldo
A
D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000150:complications / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels