Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

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(...

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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4951812/
https://ncbi.nlm.nih.gov/pubmed/27436767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep30072
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