Search details
1.
A framework for individualized splice-switching oligonucleotide therapy.
Nature
; 619(7971): 828-836, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37438524
2.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33658631
3.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proc Natl Acad Sci U S A
; 113(38): E5598-607, 2016 09 20.
Article
in English
| MEDLINE | ID: mdl-27601654
4.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Article
in English
| MEDLINE | ID: mdl-25865492
5.
Somatic mosaic deletions involving SCN1A cause Dravet syndrome.
Am J Med Genet A
; 176(3): 657-662, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29341473
6.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Hum Mutat
; 38(10): 1348-1354, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28493438
7.
Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms.
No To Hattatsu
; 48(6): 413-9, 2016 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-30010289
8.
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hum Genet
; 134(6): 649-58, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25877686
9.
[A patient with an early diagnosis of PCDH19-related epilepsy].
No To Hattatsu
; 47(4): 305-9, 2015 Jul.
Article
in Japanese
| MEDLINE | ID: mdl-26353454
10.
Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.
iScience
; 26(7): 106909, 2023 Jul 21.
Article
in English
| MEDLINE | ID: mdl-37332674
11.
A homozygous mutation of voltage-gated sodium channel ß(I) gene SCN1B in a patient with Dravet syndrome.
Epilepsia
; 53(12): e200-3, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23148524
12.
[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].
No To Hattatsu
; 44(4): 295-9, 2012 Jul.
Article
in Japanese
| MEDLINE | ID: mdl-22844760
13.
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.
Hum Mutat
; 31(7): 820-9, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20506560
14.
[A 3-year-old boy showing an episode of epileptic status provoked by high fever].
No To Hattatsu
; 46(6): 411-2, 2014 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-25558582
15.
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Commun Biol
; 1: 96, 2018.
Article
in English
| MEDLINE | ID: mdl-30175250
16.
[Enzyme replacement therapy in a patient with Pompe disease].
No To Hattatsu
; 39(5): 383-6, 2007 Sep.
Article
in Japanese
| MEDLINE | ID: mdl-17879614
17.
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
Brain Dev
; 39(4): 337-340, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27916450
18.
A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.
Brain Dev
; 38(2): 257-60, 2016 02.
Article
in English
| MEDLINE | ID: mdl-26365017
19.
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Brain Dev
; 38(3): 341-5, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26443629
20.
Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus.
Brain Dev
; 38(8): 772-6, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-26906012