A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.

Saito, T; Ishii, A; Sugai, K; Sasaki, M; Hirose, S

Saito, T; Ishii, A; Sugai, K; Sasaki, M; Hirose, S.

Affiliation

Saito T; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ishii A; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Sugai K; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Hirose S; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

Clin Genet ; 92(6): 654-658, 2017 Dec.

Article in En | MEDLINE | ID: mdl-28477354

Subject(s)

Epilepsies, Myoclonic/genetics; Mutation, Missense; Seizures/genetics; Symporters/genetics; Child; Electroencephalography; Epilepsies, Myoclonic/diagnosis; Epilepsies, Myoclonic/physiopathology; Gene Expression; Genes, Recessive; Heterozygote; Humans; Male; Maternal Inheritance; Pedigree; Seizures/diagnosis; Seizures/physiopathology; Symporters/metabolism

Key words

K+-Cl− cotransporter; NGS; SLC12A5; channel; epileptic encephalopathy; gene test; next generation sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Epilepsies, Myoclonic / Mutation, Missense / Symporters Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Clin Genet Year: 2017 Document type: Article

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