Detalhe da pesquisa
1.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Ann Neurol
; 83(6): 1133-1146, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679388
2.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865492
3.
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Ann Neurol
; 81(3): 419-429, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28133863
4.
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
Ann Neurol
; 77(4): 720-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25599672
5.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Ann Neurol
; 74(6): 873-82, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596948
6.
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
Cell Rep
; 21(13): 3754-3766, 2017 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29281825
7.
Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.
PLoS One
; 11(7): e0159472, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27416023
8.
Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.
PLoS One
; 11(6): e0156498, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281339