Detalhe da pesquisa
1.
Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies.
Curr Opin Pediatr
; 34(6): 538-543, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36081356
2.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol
; 64(6): 789-798, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080266
3.
[Medical and educational challenges in the care of children with disabilities]. / Enjeux médico-éducatifs dans la prise en charge de l'enfant en situation de handicap.
Rev Med Suisse
; 18(770): 306-309, 2022 Feb 23.
Artigo
em Francês
| MEDLINE | ID: mdl-35224903
4.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
5.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clin Genet
; 100(4): 412-429, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216016
6.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410528
7.
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Am J Med Genet A
; 182(5): 1209-1216, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040247
8.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
9.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269351
10.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
11.
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31226716
12.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
13.
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Dev Med Child Neurol
; 60(1): 100-105, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29064093
14.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
15.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
16.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631894
17.
Selected Abstracts of the 48th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique).
Neuropediatrics
; 53(S 01): 1, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35299271
18.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989088
19.
Drug-Level Monitoring on Admission for Presurgical Epilepsy Evaluation.
Eur Neurol
; 78(1-2): 105-110, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28738370
20.
Epileptic networks are strongly connected with and without the effects of interictal discharges.
Epilepsia
; 57(7): 1086-96, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153929