Chihiro Ohba
Yokohama City University(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, RNA regulation and disease, Hereditary Neurological Disorders
Most-Cited Works
- → Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb(2015)197 cited
- → Early onset epileptic encephalopathy caused by de novo SCN8A mutations(2014)169 cited
- → De novo KCNT1 mutations in early‐onset epileptic encephalopathy(2015)125 cited
- → Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood(2013)120 cited
- → PIGA mutations cause early-onset epileptic encephalopathies and distinctive features(2014)104 cited
- → Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay(2016)99 cited
- → GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders(2015)92 cited
- → De novo GABRA1 mutations in Ohtahara and West syndromes(2016)91 cited
- → De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders(2018)86 cited
- → De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy(2018)85 cited