A framework for individualized splice-switching oligonucleotide therapy

Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão, +26

Nature

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

Ikuo Ogiwara, Hiroyuki Miyamoto, Tetsuya Tatsukawa, +16

Communications Biology

A homozygous mutation of voltage‐gated sodium channel β _I gene <i>SCN1B</i> in a patient with Dravet syndrome

Ikuo Ogiwara, Tojo Nakayama, Tetsushi Yamagata, +5

Epilepsia

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny, +19

The American Journal of Human Genetics

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, +77

Genetics in Medicine

Neurodevelopmental DisordersSyndromic AutismMedicineGeneticsGenetic Disorder +11

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Qing Ouyang, Tojo Nakayama, Ozan Baytaş, +26

Proceedings of the National Academy of Sciences

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Tojo Nakayama, Jiang Wu, Patricia Galvin‐Parton, +10

Human Mutation

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Naomi Hino‐Fukuyo, Atsuo Kikuchi, Natsuko Arai‐Ichinoi, +15

Human Genetics

Mendelian DisorderAutoimmune DiseaseGenomic Analysis IdentifiesGenetic DisorderMedicine +12

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

Tojo Nakayama, Ikuo Ogiwara, Koichi Ito, +10

Human Mutation

Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy

Masaki Iwasaki, Mitsugu Uematsu, Tojo Nakayama, +8

Seizure

Family MedicineSeizure OutcomeParental SatisfactionNeuropsychological FunctioningPediatrics +4