Detalhe da pesquisa
1.
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Epilepsia
; 65(1): 37-45, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950390
2.
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
3.
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
4.
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
5.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Ann Neurol
; 89(3): 573-586, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325057
6.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934918
7.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
8.
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Dev Med Child Neurol
; 63(11): 1308-1315, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028805
9.
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia
; 61(2): 249-258, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957018
10.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090326
11.
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Epilepsia
; 60(8): 1733-1742, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313283
12.
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
Mol Genet Metab
; 123(3): 317-325, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279279
13.
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Ann Neurol
; 81(3): 419-429, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28133863
14.
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Am J Med Genet A
; 176(5): 1099-1107, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944563
15.
Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability.
Brain
; 145(2): 416-417, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35435951
16.
Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.
Epilepsia
; 58(8): 1415-1422, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605011
17.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
18.
BRAT1 mutations present with a spectrum of clinical severity.
Am J Med Genet A
; 170(9): 2265-73, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282546
19.
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Am J Med Genet A
; 167A(9): 2017-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914188
20.
The genetics of the epilepsies.
Curr Neurol Neurosci Rep
; 15(7): 39, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26008807