Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Ann Neurol
; 95(2): 365-376, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964487
3.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288683
4.
Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.
Am J Med Genet A
; 194(5): e63508, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38130096
5.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Epilepsia
; 65(3): 805-816, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279907
6.
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
Epilepsia
; 65(1): 115-126, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37846648
7.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Brain
; 146(12): 5182-5197, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015929
8.
The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children: a 10-year retrospective comparative single-center study.
Neurosurg Rev
; 47(1): 205, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38713418
9.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Hum Genet
; 142(4): 543-552, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943452
10.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633442
11.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35696452
12.
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
13.
De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Genet Med
; 24(8): 1761-1773, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511136
14.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
15.
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
16.
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Hum Mutat
; 42(9): 1094-1100, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34157790
17.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
18.
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.
Genet Med
; 23(3): 516-523, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082561
19.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
20.
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