Kiyomi Nishiyama

Yokohama, Japan

Last Updated: 09/26/2026

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Found 20 publications

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Journal: Epilepsia
Published: April 22, 2014

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Journal: Journal of human genetics
Published: January 13, 2014

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Journal: Epilepsia
Published: November 06, 2013

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Journal: Neurology
Published: August 13, 2013

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Journal: Neurogenetics
Published: July 09, 2013

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Journal: American journal of human genetics
Published: May 17, 2013

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

Journal: Human mutation
Published: May 16, 2013

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Journal: Epilepsia
Published: March 21, 2013

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Journal: Epilepsia
Published: March 18, 2013

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

Journal: Brain & development
Published: March 04, 2013

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

Journal: American journal of medical genetics. Part A
Published: January 04, 2013

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

Journal: Molecular vision
Published: November 13, 2012
Showing 1-12 of 20

Last Updated: 09/26/2026