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Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
Takayuki Yokoi1, Yumi Enomoto2, Yoshinori Tsurusaki2
11Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Abstract:
SCN2A mutations are primarily associated with a variety of epilepsy syndromes. Recently, SCN2A has been reported as a gene responsible for nonsyndromic intellectual disability or autism spectrum disorders. Here, we present a case of a 12-year-old girl with nonsyndromic intellectual disability who exhibited a heterozygous de novo missense mutation in SCN2A. She developed seizures during the course of illness. This case suggests that the phenotype of patients with heterozygous SCN2A mutations can be variable.
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