Detalhe da pesquisa
1.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
2.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 107(4): 683-697, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853554
3.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
4.
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Am J Hum Genet
; 102(4): 557-573, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576218
5.
Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany.
Epilepsia
; 62(10): 2518-2527, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378197
6.
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Neuropediatrics
; 51(5): 368-372, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392612
7.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
8.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
9.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
10.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
11.
Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
Neuropediatrics
; 49(5): 342-346, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801192
12.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet
; 11(5): e1005226, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25950944
13.
Galanin pathogenic mutations in temporal lobe epilepsy.
Hum Mol Genet
; 24(11): 3082-91, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691535
14.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol
; 77(6): 972-86, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726841
15.
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Brain
; 138(Pt 5): 1198-207, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25783594
16.
DEPDC5 mutations in genetic focal epilepsies of childhood.
Ann Neurol
; 75(5): 788-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591017
17.
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Epilepsia
; 56(3): e26-32, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25690317
18.
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Epilepsia
; 56(12): e203-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26537434
19.
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Hum Mol Genet
; 21(24): 5359-72, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949513
20.
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.
Epilepsia
; 54(5): 918-26, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23398550