Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
WONOEP 2022: Neurotechnology for the diagnosis of epilepsy.
Epilepsia
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38829313
3.
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
Neurobiol Dis
; 182: 106144, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149062
4.
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Ann Neurol
; 91(1): 101-116, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34693554
5.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
6.
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Ann Neurol
; 89(6): 1248-1252, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834539
7.
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.
Epilepsia
; 63(8): 1899-1919, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35706131
8.
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
9.
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Int J Mol Sci
; 23(3)2022 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163267
10.
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Epilepsia
; 62(6): 1416-1428, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949696
11.
Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms.
Brain
; 143(6): 1731-1745, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32437528
12.
Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis.
Neurobiol Dis
; 139: 104822, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32113911
13.
LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.
Proc Natl Acad Sci U S A
; 114(29): 7719-7724, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28673977
14.
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Acta Neuropathol
; 138(6): 885-900, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444548
15.
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
Neurogenetics
; 19(3): 165-178, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948376
16.
Reply to "Improving Specificity of CSF Liquid Biopsy for Genetic Testing".
Ann Neurol
; 90(4): 694-695, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368987
17.
Depdc5 knockout rat: A novel model of mTORopathy.
Neurobiol Dis
; 89: 180-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873552
18.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Am J Hum Genet
; 93(5): 967-75, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24207121
19.
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
20.
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Epilepsia
; 57(6): 994-1003, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173016