SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.
Mutations in the SCN1A gene have been identified in a variety of epilepsy phenotypes, from severe encephalopathies such as Dravet syndrome to milder familial forms such as generalized epilepsy with febrile seizures plus. In a previous study, an SCN1A mutation was also identified in a patient with Lennox-Gastaut syndrome (LGS), and the aim of our study was to investigate the importance of mutations in the SCN1A gene in Norwegian patients with clinical features of LGS. We screened 22 adult patients for SCN1A mutations by direct sequencing of DNA and for micro-rearrangements with multiplex ligation-dependent probe amplification. In one patient a mutation was found, which demonstrates a clinical overlap between LGS and Dravet syndrome. This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder.
Selmer
Kaja Kristine
KK
Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway.
Lund
Caroline
C
Brandal
Kristin
K
Undlien
Dag Erik
DE
Brodtkorb
Eylert
E
D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011597:Psychomotor Performance / Q000502:physiology; D015222:Sodium Channels / Q000235:genetics*; D055815:Young Adult
D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels