Article
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Scientific reports - 20 Jul 2016
Saitsu Hirotomo, Watanabe Miho, Akita Tenpei, Ohba Chihiro, Sugai Kenji, Ong Winnie Peitee, Shiraishi Hideaki, Yuasa Shota, Matsumoto Hiroshi, Beng Khoo Teik, Saitoh Shinji, Miyatake Satoko, Nakashima Mitsuko, Miyake Noriko, Kato Mitsuhiro, Fukuda Atsuo, Matsumoto Naomichi
Abstract excerpt
Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic syndromes characterized by migrating polymorphous focal seizures. Whole exome sequencing (WES) in ten sporadic and one familial case of EIMFS revealed compound heterozygous SLC12A5 (encoding the neuronal K(+)-Cl(-) co-transporter KCC2) mutations in two families: c.279 + 1G > C causing skipping of exon 3 in the transcript...
Topics
- Adult
- Biological Transport
- Child, Preschool
- Chlorides
- Female
- Humans
- Infant
- Male
- Mutation
- Polymorphism, Single Nucleotide