A. Ishii

发表

Y. Maegaki, S. Hirose, Yoshiaki Saito, 2018, Brain and Development.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Joseph Watkins, R. Macdonald, Jing-Qiong Kang, 2016, Journal of Medical Genetics.

Intermediate form between alternating hemiplegia of childhood and rapid‐onset dystonia–parkinsonism

M. Sasaki, S. Hirose, Yoshiaki Saito, 2014, Movement disorders : official journal of the Movement Disorder Society.

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood

M. Sasaki, S. Hirose, Yoshiaki Saito, 2017, Movement disorders clinical practice.

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

S. Tsuji, S. Morishita, H. Ishiura, 2013, PloS one.

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

S. Takashima, Y. Misumi, Kazuyoshi Watanabe, 2014, Epilepsy Research.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Masahiro Ito, Wang-Tso Lee, T. Fujita, 2013, Brain and Development.

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

M. Mizuguchi, K. Kikuchi, M. Kubota, 2015, Epilepsy Research.

Clinical and genetic features of acute encephalopathy in children taking theophylline

M. Mizuguchi, K. Kikuchi, M. Kubota, 2015, Brain and Development.

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

H. Kurahashi, N. Higurashi, S. Hirose, 2012, Brain and Development.

A case of recurrent encephalopathy with SCN2A missense mutation

M. Mizuguchi, T. Negoro, S. Hirose, 2015, Brain and Development.

Positive association between benign familial infantile convulsions and LGI4

S. Kaneko, B. Zhang, S. Hirose, 2010, Brain and Development.

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

M. Sasaki, S. Hirose, K. Sugai, 2017, Clinical genetics.

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

J. Inazawa, K. Moriyama, S. Hirose, 2019, Journal of Human Genetics.

Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

M. Hammer, Joseph Watkins, S. Hirose, 2017, Epilepsia.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

Takeshi Yoshida, Toshiyuki Yamamoto, S. Kure, 2018, American journal of medical genetics. Part A.

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies

T. Kojima, M. Okada, S. Kaneko, 2010, Journal of Human Genetics.

Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation

Hisako W. Yamamoto, S. Hirose, A. Ishii, 2019, Brain and Development.

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

T. Inoue, H. Kurahashi, T. Kojima, 2009, Neurology.

Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome

Y. Inoue, S. Hirose, Yukitoshi Takahashi, 2019, Epilepsy Research.

Heart rate variability in a patient with alternating hemiplegia.

T. Nakashima, S. Hirose, A. Ishii, 2019, Intractable & rare diseases research.

Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene

H. Shiraishi, S. Kohsaka, N. Asahina, 2017, Brain and Development.

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

L. Zou, S. Hirose, A. Ishii, 2016, Orphanet Journal of Rare Diseases.

The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome

S. Hirose, S. Hamano, A. Daida, 2022, Brain and Development.

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.

A. Ikeda, R. Matsumoto, R. Takahashi, 2014, Epileptic disorders : international epilepsy journal with videotape.

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

M. Ōsawa, A. Okumura, H. Kidokoro, 2013, Gene.

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

K. Ihara, S. Hirose, A. Ishii, 2013, Journal of Human Genetics.

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Toshiyuki Yamamoto, T. Fujita, S. Hirose, 2020, Congenital anomalies.

Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors

Yukitoshi Takahashi, H. Kanemura, A. Ishii, 2020, Brain and Development.

Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness

K. Arita, T. Otsubo, R. Hanaya, 2016, Epilepsy & Behavior Case Reports.

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

A. Konagaya, H. Kurahashi, T. Kojima, 2008, Epilepsia.

KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

H. Kurahashi, S. Yasumoto, S. Hirose, 2012, Epilepsy Research.

Application of induced pluripotent stem cells in epilepsy

Mami Shibata, N. Higurashi, Toshiyuki Yamamoto, 2020, Molecular and Cellular Neuroscience.

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

M. Hammer, Joseph Watkins, S. Hirose, 2017, PloS one.

New Genes for Epilepsy–Autism Comorbidity

S. Hirose, A. Ishii, 2017, Journal of Pediatric Neurology.

Ring Chromosome 20 Syndrome and Epilepsy

S. Hirose, A. Ishii, 2015, Journal of Pediatric Epilepsy.

SCN8A encephalopathy: Research progress and prospects

A. L. Goldin, Jacy L. Wagnon, M. Hammer, 2016, Epilepsia.

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

S. Hirose, E. Takeshita, N. Sumitomo, 2022, Pediatric reports.

Genetic Background of Encephalopathy

S. Hirose, A. Ishii, 2018 .

FULL-LENGTH ORIGINAL RESEARCH Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

A. Konagaya, H. Kurahashi, T. Kojima, 2008 .

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2022, Scientific Reports.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes

H. Kurahashi, N. Higurashi, S. Hirose, 2016, Brain and Development.

Two mild cases of Dravet syndrome with truncating mutation of SCN1A

S. Hirose, A. Kumakura, A. Ishii, 2017, Brain and Development.

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion

M. Mizuguchi, K. Kikuchi, M. Kubota, 2020, Journal of the Neurological Sciences.

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

Y. Maegaki, S. Hirose, K. Ohno, 2018, Brain and Development.

Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017

J. Takanashi, M. Mizuguchi, A. Oka, 2020, Brain and Development.

Genotype–phenotype correlations in alternating hemiplegia of childhood

Akihiro Yasuhara, Hirokazu Oguni, Bo Zhang, 2014, Neurology.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

N. Matsumoto, H. Ikeda, T. Okanishi, 2019, Epileptic disorders : international epilepsy journal with videotape.

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Mami Shibata, S. Hirose, A. Ishii, 2020, Journal of Human Genetics.

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

H. Kurahashi, T. Awaya, J. Tohyama, 2019, Seizure.

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

Mami Shibata, E. Cooper, S. Hirose, 2019, Epilepsia.

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

S. Petrou, T. Furukawa, T. Okanishi, 2015, PloS one.

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Y. Makita, A. Mitsudome, M. Okada, 2009, Brain and Development.

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

N. Matsumoto, S. Miyatake, E. Koshimizu, 2019, Seizure.

Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations

Shinichi Hirose, Yuko Tomonoh, Masanobu Deshimaru, 2016, PloS one.

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

H. Kurahashi, N. Higurashi, S. Hirose, 2012, Epilepsy Research.

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

G. Nishimura, Toshiko Mori, S. Hirose, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

K. Yamakawa, H. Osaka, Hiroko Shimbo, 2015, Brain and Development.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features

Mami Shibata, T. Kawai, Y. Okuno, 2018, Brain and Development.

Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam.

T. Maeda, S. Hirose, A. Ishii, 2014, Pediatric neurology.

CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2021 .

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

Y. Maegaki, S. Hirose, Yoshiaki Saito, 2018, Brain and Development.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Wang-Tso Lee, T. Fujita, S. Yasumoto, 2013, Brain and Development.