Detalhe da pesquisa
1.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30368457
2.
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Hum Mutat
; 39(12): 1942-1956, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30144217
3.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29460957
4.
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Epilepsia
; 56(9): e114-20, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26122718
5.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Epilepsia Open
; 8(4): 1300-1313, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37501353
6.
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Eur J Neurosci
; 34(8): 1268-75, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21864321
7.
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
Pediatr Int
; 52(2): 234-9, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19563458
8.
Modifier genes in SCN1A-related epilepsy syndromes.
Mol Genet Genomic Med
; 8(4): e1103, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32032478
9.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Mol Genet Genomic Med
; 7(7): e00727, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31144463
10.
Discontinuous conduction in mouse bundle branches is caused by bundle-branch architecture.
Circulation
; 112(15): 2235-44, 2005 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-16203908
11.
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Mol Genet Genomic Med
; 4(5): 568-80, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27652284
12.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Mol Genet Genomic Med
; 4(4): 457-64, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27465585
13.
P19 embryonal carcinoma cells: a suitable model system for cardiac electrophysiological differentiation at the molecular and functional level.
Cardiovasc Res
; 58(2): 410-22, 2003 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12757875
14.
Etiologies for seizures around the time of vaccination.
Pediatrics
; 134(4): 658-66, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25225143
15.
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.
J Child Neurol
; 29(5): 704-7, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24114605
16.
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.
J Gen Physiol
; 142(6): 641-53, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24277604
17.
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
PLoS One
; 8(6): e65758, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23762420
18.
Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency.
Neurology
; 87(1): e4-5, 2016 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27378809
19.
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
Neurosci Lett
; 462(1): 24-9, 2009 Oct 02.
Artigo
Inglês
| MEDLINE | ID: mdl-19559753
20.
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
Arthritis Rheum
; 50(8): 2719-20, 2004 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-15334500