Detalhe da pesquisa
1.
Novel NALCN variant linked to temporal lobe epilepsy.
Am J Med Genet A
; 191(7): 1942-1947, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046053
2.
Usage of Genetic Panels in an Adult Epilepsy Clinic.
Can J Neurol Sci
; 50(3): 411-417, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35478072
3.
Increased frequency of proinflammatory CD4 T cells and pathological levels of serum neurofilament light chain in adult drug-resistant epilepsy.
Epilepsia
; 62(1): 176-189, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140401
4.
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
PLoS Genet
; 14(4): e1007285, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29649218
5.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100083
6.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Epilepsia
; 61(4): 657-666, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141622
7.
Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.
Can J Neurol Sci
; 47(6): 800-809, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32536355
8.
Human copy number variants are enriched in regions of low mappability.
Nucleic Acids Res
; 46(14): 7236-7249, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30137632
9.
Utility of magnetic source imaging in nonlesional focal epilepsy: a prospective study.
Neurosurg Focus
; 48(4): E16, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32234989
10.
De novo mutations in epileptic encephalopathies.
Nature
; 501(7466): 217-21, 2013 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23934111
11.
Effects of SYN1Q555X mutation on cortical gray matter microstructure.
Hum Brain Mapp
; 39(8): 3428-3448, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671924
12.
γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment.
Epilepsia
; 59(11): 2061-2074, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30324621
13.
The clinical impact of integration of magnetoencephalography in the presurgical workup for refractory nonlesional epilepsy.
Epilepsy Behav
; 79: 34-41, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253675
14.
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
BMC Pediatr
; 18(1): 90, 2018 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29486744
15.
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
BMC Pediatr
; 18(1): 138, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665810
16.
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
Hum Mol Genet
; 23(1): 90-103, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956174
17.
The genetic landscape of infantile spasms.
Hum Mol Genet
; 23(18): 4846-58, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781210
18.
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Ann Neurol
; 77(4): 675-83, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25623524
19.
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
EMBO Rep
; 15(7): 766-74, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928908
20.
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
Hum Mol Genet
; 22(11): 2186-99, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23406870