Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.
Pereira
S
S
INSERM U491, Marseille, France.
Vieira
J P
JP
Barroca
F
F
Roll
P
P
Carvalhas
R
R
Cau
P
P
Sequeira
S
S
Genton
P
P
Szepetowski
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics / Q000648:ultrastructure*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004828:Epilepsies, Partial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D015222:Sodium Channels / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D013576:Syndactyly / Q000235:genetics
D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; C568251:SCN2A protein, human; D015222:Sodium Channels