Detalhe da pesquisa
1.
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
Am J Hum Genet
; 109(11): 2080-2087, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36288729
2.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
3.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Ann Neurol
; 94(5): 825-835, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597255
4.
Familial aggregation of seizure outcomes in four familial epilepsy cohorts.
Epilepsia
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38738647
5.
Genes4Epilepsy: An epilepsy gene resource.
Epilepsia
; 64(5): 1368-1375, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36808730
6.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Epilepsia
; 64(8): e164-e169, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810721
7.
Recognition and epileptology of protracted CLN3 disease.
Epilepsia
; 64(7): 1833-1841, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37039534
8.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779245
9.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085104
10.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967
11.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
12.
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Hum Mutat
; 40(4): 374-379, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556619
13.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia
; 60(5): e31-e36, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719712
14.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol
; 81(5): 677-689, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28380698
15.
Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.
Epilepsia
; 59(8): e125-e129, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974457
16.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Hum Mol Genet
; 24(16): 4483-90, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25954030
17.
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
Epilepsia
; 57(4): 549-56, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813249
18.
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
EMBO Rep
; 15(6): 723-9, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668262
19.
Using familial information for variant filtering in high-throughput sequencing studies.
Hum Genet
; 133(11): 1331-41, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25129038
20.
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.
Epilepsia
; 55(2): e18-21, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24483274