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1.
Parents' priorities for decision-making of pediatric epilepsy treatments and perceived needs for decision support in multi-ethnic Asian clinical setting: A qualitative analysis.
Epilepsy Behav
; 135: 108880, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35986955
2.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Article
in English
| MEDLINE | ID: mdl-33150406
3.
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
J Med Genet
; 53(5): 310-7, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26993267
4.
RARS2 mutations in a sibship with infantile spasms.
Epilepsia
; 57(5): e97-e102, 2016 May.
Article
in English
| MEDLINE | ID: mdl-27061686
5.
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Dev Med Child Neurol
; 58(4): 416-20, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26645412
6.
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Dev Med Child Neurol
; 56(11): 1124-8, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24684524
7.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Article
in English
| MEDLINE | ID: mdl-38165337
8.
Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling.
Nat Neurosci
; 25(7): 956-966, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35739273
9.
Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam.
Child Neurol Open
; 8: 2329048X211046447, 2021.
Article
in English
| MEDLINE | ID: mdl-34708144
10.
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Sci Transl Med
; 13(594)2021 05 19.
Article
in English
| MEDLINE | ID: mdl-34011628
11.
Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy.
JCI Insight
; 52019 03 26.
Article
in English
| MEDLINE | ID: mdl-30912766
12.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
; 90(1): e55-e66, 2018 01 02.
Article
in English
| MEDLINE | ID: mdl-29196579
13.
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor Other Hyperkinet Mov (N Y)
; 7: 452, 2017.
Article
in English
| MEDLINE | ID: mdl-28428906
14.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nat Genet
; 49(2): 223-237, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27992417
15.
Delineation of the movement disorders associated with FOXG1 mutations.
Neurology
; 86(19): 1794-800, 2016 05 10.
Article
in English
| MEDLINE | ID: mdl-27029630
16.
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nat Genet
; 49(6): 969, 2017 05 26.
Article
in English
| MEDLINE | ID: mdl-28546572
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