De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, +18

Nature Genetics

Cell AutophagyNeurodegenerative DiseasesMitophagyNeurological DisorderGenetics +8

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Ai Hoshino, Makiko Saitoh, Akira Oka, +8

Brain and Development

Neuroinfectious DiseasesNeurovirologyPathogenesisVirologyDisease Outbreak +8

Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene.

Juro Sakai, Ai Hoshino, S Takahashi, +5

Journal of Biological Chemistry

Glucocorticoid receptor activation is involved in producing abnormal phenotypes of single-prolonged stress rats: A putative post-traumatic stress disorder model

Kohfuku Kohda, Katsuya Harada, K. Katō, +6

Neuroscience

PsychoneuroimmunologyPsychopathologyStress HormonePsychiatryStress +12

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

Mariko Kasai, A. Shibata, Ai Hoshino, +11

Brain and Development

Epidemiological TrendEpidemiological OutcomeMedicineNeuroepidemiologyClinical Epidemiology +11

Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children

Masaya Kubota, Junji Chida, Hideki Hoshino, +10

Brain and Development

Japanese ChildrenPhysiologyInherited Metabolic DiseasePediatricsNeurology +3

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

Makiko Saitoh, Atsushi Ishii, Yukiko Ihara, +8

Epilepsy Research

ChannelopathiesSevere Febrile SeizuresMissense MutationsNeurophysiologyGenetic Disorder +9

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

Keiko Shimojima, Takehiko Inoue, Ai Hoshino, +14

Brain and Development

Variable SizesMendelian DisorderGenetic DisorderGeneticsPathology +6

Autoimmune neurological disorders associated with group-A beta-hemolytic streptococcal infection

Yasuo Hachiya, Rie Miyata, Naoyuki Tanuma, +9

Brain and Development

Autoimmune DiseaseBacterial MeningitisMedicineAutoimmunityAutoantibodies +7

Familial acute necrotizing encephalopathy without <i><scp>RANBP</scp>2</i> mutation: Poor outcome

Naoko Nishimura, Yoshihisa Higuchi, Nobusuke Kimura, +5

Pediatrics International