Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, +19

Epilepsia

Genotype–phenotype correlations in alternating hemiplegia of childhood

Masayuki Sasaki, Atsushi Ishii, Yoshiaki Saito, +31

Neurology

Everolimus for treatment-refractory seizures in TSC

David Neal Franz, John A. Lawson, Hiroko Ikeda, +112

Neurology Clinical Practice

Vitamin B ₆ –responsive epilepsy due to inherited GPI deficiency

Ichiro Kuki, Yukitoshi Takahashi, Shin Okazaki, +5

Neurology

GeneticsPathologyDisease Gene IdentificationPathophysiologySocial Sciences +25

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

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

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Kenji Kurosawa, Hiroshi Kawame, Nobuhiko Okamoto, +12

Brain and Development

NeuropsychologyNeurological DisorderClinical NeurologyNeuropsychiatrySocial Sciences +7

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

Biallelic <i>KARS</i> pathogenic variants cause an early-onset progressive leukodystrophy

Masayuki Itoh, Hongmei Dai, Shin‐ichi Horike, +15

Brain

ImmunodeficienciesGeneticsImmunologyPathologyIntractable Epilepsy +19