Detalhe da pesquisa
1.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37551667
2.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Brain
; 145(6): 1939-1948, 2022 06 30.
Artigo
Inglês
| MEDLINE | ID: mdl-35773235
3.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
J Neurophysiol
; 128(1): 40-61, 2022 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35583973
4.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982612
5.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34185323
6.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Epilepsia
; 63(7): e68-e73, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35474188
7.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32376980
8.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Ann Neurol
; 86(6): 899-912, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31600826
9.
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Am J Med Genet A
; 182(6): 1460-1465, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32267060
10.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Hum Mutat
; 40(11): 2108-2120, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31301155
11.
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Am J Hum Genet
; 99(6): 1261-1280, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27839871
12.
Immediate outcomes in early life epilepsy: A contemporary account.
Epilepsy Behav
; 97: 44-50, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31181428
13.
The incidence and significance of periictal apnea in epileptic seizures.
Epilepsia
; 59(3): 573-582, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29336036
14.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29315614
15.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28377535
16.
Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations.
J Pediatr
; 184: 172-177.e1, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28410084
17.
Response to treatment in a prospective national infantile spasms cohort.
Ann Neurol
; 79(3): 475-84, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26704170
18.
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Epilepsia
; 58(1): e10-e15, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27861786
19.
Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort.
Epilepsia
; 57(11): 1834-1842, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27615012
20.
Hypsarrhythmia assessment exhibits poor interrater reliability: a threat to clinical trial validity.
Epilepsia
; 56(1): 77-81, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25385396