Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.
Cell
; 151(3): 483-96, 2012 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23101622
3.
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Epilepsia
; 65(5): 1428-1438, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470175
4.
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Dev Med Child Neurol
; 66(4): 456-468, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37771170
5.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921875
6.
Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.
Neurobiol Dis
; 181: 106104, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972791
7.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 107(4): 683-697, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853554
8.
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Epilepsia
; 64(7): e143-e147, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37096745
9.
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Epilepsia
; 64(7): 1821-1832, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114835
10.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441233
11.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
12.
Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy.
Epilepsy Behav
; 149: 109517, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956604
13.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet
; 59(3): 262-269, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397746
14.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
15.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
16.
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.
Neurobiol Dis
; 169: 105738, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460869
17.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104773
18.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
19.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
20.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193