Takahito Inoue

发表

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

T. Shiihara, N. Matsumoto, J. Azuma, 2015, Epilepsia.

Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

H. Oguni, Kazuyoshi Watanabe, A. Mitsudome, 2004, Epilepsia.

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication

Toshiyuki Yamamoto, T. Fujita, S. Yasumoto, 2012, Journal of Human Genetics.

Newborn screening for Gaucher disease in Japan

F. Endo, Takahito Inoue, Jun Kido, 2022, Molecular genetics and metabolism reports.

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.

Diagnosing nocturnal frontal lobe epilepsy: A case study of two children

A. Mitsudome, T. Fujita, S. Yasumoto, 2011, Seizure.

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.

Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy

T. Fujita, S. Yasumoto, S. Hirose, 2014, Brain and Development.

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

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

Survival and late effects on development of patients with infantile brain tumor

T. Fukushima, S. Yasumoto, S. Hirose, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

Kyoko Takano, N. Higurashi, S. Hirose, 2015, Seizure.

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

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

Newborn screening for Fabry disease in the western region of Japan

F. Endo, S. Hirose, Takahito Inoue, 2020, Molecular genetics and metabolism reports.

Current status of newborn screening for Pompe disease in Japan

F. Endo, S. Ohga, S. Hirose, 2021, Orphanet Journal of Rare Diseases.

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

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

A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

A. Mitsudome, S. Hirose, K. Wada, 2000, Annals of neurology.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

S. Hirose, Takahito Inoue, Jun Kido, 2019, Journal of Human Genetics.

A Case of West Syndrome Associated with Neonatal Hypoglycemic Brain Injury

T. Fujita, S. Yasumoto, S. Hirose, 2010 .

A Case of Tetrasomy 18p with Tracheomalacia

S. Hirose, R. Tsurusawa, Takahito Inoue, 2013 .

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

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

Kyoko Takano, H. Ikeda, Mitsuhiro Kato, 2013, Epilepsy Research.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

F. Endo, S. Hirose, Takahito Inoue, 2019, Journal of Human Genetics.

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.

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

S. Hirose, Takahito Inoue, Jun Kido, 2023, Molecular Genetics and Metabolism Reports.

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

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

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.

Scalp EEG-recorded high-frequency oscillations can predict seizure activity in Panayiotopoulos syndrome

T. Fujita, S. Yasumoto, Takahito Inoue, 2023, Clinical Neurophysiology.

Magnetic resonance imaging volumetry and clinical analysis of epilepsy patients with unilateral hippocampal abnormality

S. Takashima, A. Mitsudome, S. Yasumoto, 2012, Pediatrics international : official journal of the Japan Pediatric Society.