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Masayasu Ohta

13

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221

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Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy

2019 Brain & Development
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PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

2018
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A Case of Wolf-Hirschhorn Syndrome and Familial Mediterranean Fever

2016
- Kazuaki Matsumoto
- Masayasu Ohta
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Citations (1)
Disorders & Genetic Reports

2016
- Kazuaki Matsumoto
- Masayasu Ohta
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Frameshift mutations of the ARX gene in familial Ohtahara syndrome

2010 Epilepsia
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A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty.

2007 Endocrine Journal
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Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18

2004 Neurology
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Citations (64)
Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients.

2003 Neuropediatrics
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Failure to find causal mutations in the GABAA-receptor γ2 subunit (GABRG2) gene in Japanese febrile seizure patients

2003 Neuroscience Letters
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Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans

2002 Neuroscience Letters
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Citations (22)