SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing?
Holland
Katherine D
KD
D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics; D004829:Epilepsy, Generalized / Q000208:ethnology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D040582:Inheritance Patterns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D019683:Penetrance; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics; D012537:Scandinavian and Nordic Countries / Q000208:ethnology; D003294:Seizures, Febrile / Q000208:ethnology / Q000235:genetics*; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D015222:Sodium Channels