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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
TLDR
Findings suggest that haploinsufficiency of STXBP1 causes early infantile epileptic encephalopathy with suppression-burst, and that a mutant form of the protein was significantly thermolabile compared to wild type. Expand
Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
TLDR
The results indicate that P0 is a gene responsible for CMT1B, and point mutations found are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Expand
Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
TLDR
Researchers studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients, six of them were novel and one of them was a de novo mutation. Expand
Molecular analysis of congenital central hypoventilation syndrome
TLDR
The prominent role of mutations in the PHOX2B gene in the pathogenesis of CCHS is confirmed and the analysis of more cases and further candidates concerned with the development of the autonomic nervous system is required. Expand
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
TLDR
Three major myelin-related protein mutations induced varied degrees of axonal and demyelinating phenotypic features according to the specific gene mutation as well as the stage of disease advancement, while clinically evident muscle wasting was attributable to loss of functioning large axons. Expand
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
TLDR
This study confirmed that SCN2A mutations are an important genetic cause of Ohtahara syndrome, and genetic testing for SCN1A should be considered for children with different epileptic conditions. Expand
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
TLDR
The observation that EIEE had a longer expansion of the polyalanine tract than is seen in West syndrome is consistent with the findings of earlier onset and more-severe phenotypes in EiEE than in West Syndrome. Expand
Molecular analysis in Japanese patients with Charcot‐Marie‐Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations
TLDR
Denaturing gradient gel electrophoresis analysis was sensitive for screening for gene mutations, but causative gene mutation was not identified in many of the Japanese patients with CMT, especially with C MT1. Expand
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese
TLDR
The data suggest that the high frequency of the Gly71Arg mutation of the B‐UGT gene is associated with high incidence of neonatal hyperbilirubinemia in Japanese, Korean and Chinese populations. Expand
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
TLDR
De novo heterozygous mutations in GNAO1, which encodes a G αo subunit of heterotrimeric G proteins, are identified in four individuals with epileptic encephalopathy, suggesting that aberrant Gαo signaling can cause multiple neurodevelopmental phenotypes, including epilepticEncephalopathy and involuntary movements. Expand
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