Detalhe da pesquisa
1.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734923
2.
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
3.
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics
; 22(4): 333-341, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405299
4.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
5.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026061
6.
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Neurobiol Dis
; 80: 80-92, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26007637
7.
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Am J Hum Genet
; 91(5): 912-8, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23084291
8.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26514728
9.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
J Med Genet
; 49(6): 400-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693284
10.
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Hum Mutat
; 32(9): 1046-52, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21560188
11.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Eur J Paediatr Neurol
; 33: 75-85, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102571
12.
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Hum Mutat
; 31(7): E1564-73, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583302
13.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Orphanet J Rare Dis
; 15(1): 148, 2020 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532349
14.
Corticosteroids as treatment of epileptic syndromes with continuous spike-waves during slow-wave sleep.
Epilepsia
; 50 Suppl 7: 68-72, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19682056
15.
Clinical spectrum of STX1B-related epileptic disorders.
Neurology
; 92(11): e1238-e1249, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737342
16.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet J Rare Dis
; 8: 80, 2013 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692823