Detalles de la búsqueda
1.
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.
Am J Med Genet A;
191(3): 870-877, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36548033
2.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain;
145(9): 2991-3009, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34431999
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31104773
4.
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Neuropediatrics;
50(1): 57-60, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30517966
5.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet;
55(2): 104-113, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29097605
6.
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Neuropediatrics;
49(3): 204-208, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29444535
7.
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
BMC Med Genet;
18(1): 62, 2017 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28576131
8.
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
Am J Med Genet A;
185(5): 1363-1365, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33590706
9.
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Eur J Paediatr Neurol;
48: 17-29, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38008000
10.
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Ital J Pediatr;
49(1): 11, 2023 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658659
11.
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.
Brain Commun;
5(6): fcad283, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38425576
12.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology;
100(6): e603-e615, 2023 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36307226
13.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq;
2023 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37841849
14.
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.
Eur J Med Genet;
64(9): 104263, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34174466
15.
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Eur J Paediatr Neurol;
28: 81-88, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32811771
16.
Genetic heterogeneity in infantile spasms.
Epilepsy Res;
156: 106181, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31394400
17.
Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder.
Neuro Endocrinol Lett;
29(4): 512-7, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18766147
18.
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Orphanet J Rare Dis;
13(1): 71, 2018 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29720203
19.
Epileptiform activity in children with developmental dysphasia: quantification of discharges in overnight sleep video-EEG.
Epileptic Disord;
9 Suppl 1: S28-35, 2007 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18319198
20.
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Genet Test Mol Biomarkers;
21(10): 613-618, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28872899