SCN1A mutation associated with atypical Panayiotopoulos syndrome.
Grosso
S
S
Department of Pediatrics, Pediatric Neurology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.
Orrico
A
A
Galli
L
L
Di Bartolo
R
R
Sorrentino
V
V
Balestri
P
P
D019943:Amino Acid Substitution; D002648:Child; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000145:classification / Q000235:genetics*; D005260:Female; D005334:Fever / Q000209:etiology*; D020022:Genetic Predisposition to Disease; D006323:Heart Arrest / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome; D014839:Vomiting / Q000209:etiology
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels