Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.
Provenzano
Giovanni
G
Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. g.provenzano@isn.cnr.it
Mannarino
E
E
Annesi
F
F
De Marco
E V
EV
Rocca
F E
FE
Greco
V
V
Scornaienchi
V
V
Tarantino
P
P
Civitelli
D
D
Quattrone
A
A
Tortorella
G
G
Annesi
G
G
D001483:Base Sequence; D016022:Case-Control Studies; D003062:Codon; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009711:Nucleotides / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D003062:Codon; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D009711:Nucleotides; C568242:SCN1A protein, human; D015222:Sodium Channels