Main Article Content
Background Mutations in the a-subunit of the first neuronal
sodium channel gene SCNIA have been demonstrated for
generalized epilepsy \\lith febrile seizures plus (GEFS+), severe
myoclonic epilepsy in infancy (SMEI), and borderline SMEI
(SMEB). SCNIA mutations are also described in patients 'With
psychiatric disorders such as autism.
Objective To identify the mutations of SCNIA gene in patients
with GEFS+ spectrum which may be related to autism.
Methods We examined four patients v.ith autism and GEFS+
spectrum who were admitted to the Department of Child Health,
Sardjito Hospital, Yogyakarta, Indonesia. Diagnosis of autism was
based on DSMIV;ICD X criteria. Mutations in SCNIA were
identified by PCRamplification and denaturing highperformance
liquid chromatography analysis, Mth subsequent sequencing.
Results There were four patients, all boys, aged 1.8 year to 7 years.
The phenotypes of epilepsy were GEFS+ in one patient, SMEB
in one patient and SMEI in two patients. Sequencing analysis
revealed a GtoA heterozygous transition which was detected
at nucleotide c.4834G>A (p.V1612I ) in exon 25. Other single
nucleotid polymorphisms (SNPs) were c.383 +66T>C in intron 2,
c.603-91G>A and c.603-1060> T in intron 4, c.965-21C> T in
intron 6, c.1028+21T>Cin intron 7, c.2173G>A in exon 12 and
c. 2177-38C>A, c.2177-12delT, c.2176+44C> T in intron 12.
Conclusion In this study, we reported the first cases Mth mutation
in SCNIA gene in GEFS+ spectrum related to autistic patients
in Indonesian population, which showed a missense mutation
p.V16121. [Paediatr lndones. 2010;50:125-32].
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