Vitamin B ₆ –responsive epilepsy due to inherited GPI deficiency

Ichiro Kuki, Yukitoshi Takahashi, Shin Okazaki, +5

Neurology

GeneticsPathologyDisease Gene IdentificationPathophysiologySocial Sciences +25

<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders

Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, +17

Annals of Clinical and Translational Neurology

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, +62

Nature Communications

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, +13

Journal of Human Genetics

SequencingEngineeringWhole-exome Sequencing DataCopy-number VariationsGenetics +10

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)

Shin Okazaki, Maki Ohsawa, Ichiro Kuki, +12

Acta Neuropathologica

NeuroanatomyAbnormal DistributionMedicineNeurologyNeuroscience +5

Determinants of outcomes following acute child encephalopathy and encephalitis: pivotal effect of early and delayed cooling

Gou Kawano, Osuke Iwata, Sachiko Iwata, +9

Archives of Disease in Childhood

Quinidine therapy for West syndrome with KCNTI mutation: A case report

Masataka Fukuoka, Ichiro Kuki, Hisashi Kawawaki, +14

Brain and Development

Genetic DisorderWest SyndromePathologyQuinidine TherapyMedicine +2

Intrathecal dexamethasone therapy for febrile infection‐related epilepsy syndrome

Asako Horino, Ichiro Kuki, Takeshi Inoue, +9

Annals of Clinical and Translational Neurology

Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variants

Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, +72

Journal of Medical Genetics

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

Yuki Kawasaki, Ichiro Kuki, Eiji Ehara, +9

The Journal of Pediatrics

Pulmonary Collateral ArteriesKcnt1 MutationsCongenital Heart DefectCongenital Heart AnomalyMassive Systemic +1