Detalhe da pesquisa
1.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet
; 31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137044
2.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Ann Neurol
; 94(5): 825-835, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597255
3.
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
Epilepsia
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38845412
4.
Indications and prescribing patterns of antiseizure medications in children in New Zealand.
Dev Med Child Neurol
; 65(9): 1247-1255, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36775823
5.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
6.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
7.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
8.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410528
9.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
10.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
11.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967
12.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Ann Neurol
; 86(6): 821-831, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31618474
13.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177578
14.
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Mol Psychiatry
; 24(2): 241-251, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29892053
15.
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
Epilepsia
; 61(4): e23-e29, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162308
16.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
17.
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
Adv Exp Med Biol
; 1298: 177-187, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852734
18.
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Am J Hum Genet
; 99(2): 423-9, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453577
19.
Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.
Epilepsia
; 60(3): 429-440, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828795
20.
The epileptology of GNB5 encephalopathy.
Epilepsia
; 60(11): e121-e127, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31631344