Detalhe da pesquisa
1.
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Dev Med Child Neurol
; 63(12): 1441-1447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247411
2.
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Am J Hum Genet
; 96(5): 808-15, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865495
3.
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Epilepsia
; 59(1): e5-e13, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29171013
4.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307226
5.
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Neurology
; 85(9): 756-62, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224730
6.
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Neurol Genet
; 1(2): e17, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066554
7.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO Mol Med
; 7(12): 1580-94, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26613940
8.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO Mol Med
; 9(12): 1764, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196314