Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-35080266
2.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33410528
3.
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Am J Med Genet A
; 182(5): 1209-1216, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32040247
4.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32452540
5.
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31226716
6.
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
Inglês
| MEDLINE | ID: mdl-29064093
7.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28377535
8.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28631894
9.
Selected Abstracts of the 48th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique).
Neuropediatrics
; 53(S 01): 1, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35299271
10.
Drug-Level Monitoring on Admission for Presurgical Epilepsy Evaluation.
Eur Neurol
; 78(1-2): 105-110, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28738370
11.
Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome.
Epilepsia
; 56(10): 1477-81, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26293471
12.
A child with ictal vocalizations and generalized epilepsy.
Epileptic Disord
; 17(1): 67-70; quiz 71, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25711155
13.
Towards the identification of a genetic basis for Landau-Kleffner syndrome.
Epilepsia
; 55(6): 858-65, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24828792
14.
Epilepsy: old syndromes, new genes.
Curr Neurol Neurosci Rep
; 14(6): 447, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24740805
15.
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.
Neuropediatrics
; 45(1): 64-8, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24297574
16.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38165337
17.
Epilepsy classification: a cycle of evolution and revolution.
Curr Opin Neurol
; 26(2): 163-7, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23406910
18.
Head stereotypies in STXBP1 encephalopathy.
Dev Med Child Neurol
; 55(8): 769-72, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23763664
19.
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Cells
; 12(20)2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37887313
20.
[Therapeutic advances in refractory epilepsies in children]. / Avancées thérapeutiques dans les epilepsies réfractaires de l'enfant.
Rev Med Suisse
; 8(329): 413-4, 416-7, 2012 Feb 22.
Artigo
Francês
| MEDLINE | ID: mdl-22432242