Makiko Ōsawa

Epileptic seizures temporally associated with recombinant human growth hormone therapy in children: A case series of three patients

Shigeru NAGAKI, Minobu Shichiji, Hirokazu Oguni, Makiko Ōsawa

We report three pediatric patients who developed epileptic seizures while receiving recombinant human growth hormone therapy. Case 1 was a 12-year-old girl with a history of febrile seizures and epilepsy whose seizures recurred after discontinuation of antiepileptic medication during ongoing recombinant human …

jp (code pays fourni par la source)

Sialidosis type1 with cardiac malformation: A case report

Motoko Otsuka, Shigeru NAGAKI, Kaoru Eto, Yasushi Ito et autres

Sialidosis is a rare autosomal recessive lysosomal storage disease caused by a variant in the neuraminidase 1 (NEU1) gene encoding lysosomal neuraminidase, and is a rare cause of progressive myoclonus epilepsies (PME). Sialidosis is classified into two types. Sialidosis type 1 is …

jp (code pays fourni par la source)

Epilepsy associated with Graves’ disease: Report of two cases

Shigeru NAGAKI, Makiko Ōsawa, Satoru Nagata

We present two cases of epilepsy associated with Graves' disease. Case 1 is a 22-year-old woman. She had three epileptic seizures and was diagnosed with idiopathic generalized epilepsy. She was treated with valproic acid (VPA). She was later diagnosed with Graves' disease, …

jp (code pays fourni par la source)

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

N Kuyama, Shigeru NAGAKI, Akie Miyamoto, Hiroshi Maruyama et autres

Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation. She had suffered parotid swelling since the age of 5 years, prior to liver dysfunction …

jp (code pays fourni par la source)

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

Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre et autres

CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide association study (GWAS) in Japanese population. A CUX2 recurrent de novo variant p.E590K …

jp, au (code pays fourni par la source)

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

Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre et autres

Abstract CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide association study (GWAS) in Japanese population. A CUX2 recurrent de novo variant …

jp, au (code pays fourni par la source)

A short form of gross motor function measure for Fukuyama congenital muscular dystrophy

Takatoshi Sato, Michiru Adachi, Aya Matsuo, Masaya Zushi et autres

jp (code pays fourni par la source)

Turner syndrome with idiopathic thrombocytopenic purpura in childhood

Shigeru NAGAKI, Kumiko Miwa, Yukiko Tsunematsu, Makiko Ōsawa et autres

jp (code pays fourni par la source)

Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease

Keisuke Yoshii, Hideki Matsumoto, Kyoko Hirasawa, Masako Sakauchi et autres

jp (code pays fourni par la source)

Efficacy, safety, and pharmacokinetics of intravenous midazolam in Japanese children with status epilepticus

Shin‐ichiro Hamano, Kenji Sugai, Masuo Miki, Toshiyuki Tabata et autres

jp (code pays fourni par la source)

Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission

Stéphane Auvin, Elaine Wirrell, Kirsten A. Donald, Madison M. Berl et autres

Attention‐deficit/hyperactivity disorder (ADHD) is a common and challenging comorbidity affecting many children with epilepsy. A working group under the International League Against Epilepsy (ILAE) Pediatric Commission identified key questions on the identification and management of ADHD in children with epilepsy. Systematic reviews …

fr, us, Afrique du Sud, de, br, jp, Kenya, in, ca, gb (code pays fourni par la source)

Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission

Stéphane Auvin, Elaine Wirrell, Kirsten A. Donald, Madison M. Berl et autres

Attention-deficit/hyperactivity disorder (ADHD) is a common and challenging comorbidity affecting many children with epilepsy. A working group under the International League Against Epilepsy (ILAE) Pediatric Commission identified key questions on the identification and management of ADHD in children with epilepsy. Systematic reviews …

fr, us, Afrique du Sud, de, br, jp, Kenya, in, ca, gb (code pays fourni par la source)