Detalles de la búsqueda
1.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Cereb Cortex
; 33(12): 7454-7467, 2023 06 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36977636
2.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-34245260
3.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Hum Genet
; 142(12): 1747-1754, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37957369
4.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34633442
5.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34431999
6.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
J Hum Genet
; 67(3): 127-132, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34504271
7.
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Epilepsia
; 63(3): 723-735, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35032048
8.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann Hum Genet
; 85(5): 186-195, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34111303
9.
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain
; 142(2): 376-390, 2019 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30615093
10.
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Neurogenetics
; 20(2): 91-98, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30982090
11.
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.
BMC Genomics
; 19(1): 46, 2018 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29334895
12.
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
BMC Med Genet
; 19(1): 72, 2018 05 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29739362
13.
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
BMC Neurol
; 18(1): 175, 2018 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30352563
14.
Contribution of autosomal rare and de novo variants to sex differences in autism.
medRxiv
; 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38699304
15.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.
medRxiv
; 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38798571
16.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Eur J Hum Genet
; 2024 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38316952
17.
Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics.
Expert Rev Mol Diagn
; 23(8): 723-727, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37449513
18.
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data.
Curr Neuropharmacol
; 21(1): 105-118, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-35579153
19.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine
; 98: 104855, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38251463
20.
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Eur J Hum Genet
; 2023 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37012327