Search details
1.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906499
2.
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.
Article
in English
| MEDLINE | ID: mdl-30368457
3.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30093711
4.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30262923
5.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30158694
6.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30527252
7.
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Hum Mutat
; 39(12): 1942-1956, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30144217
8.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29750338
9.
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.
Article
in English
| MEDLINE | ID: mdl-29460957
10.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Article
in English
| MEDLINE | ID: mdl-28379373
11.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27358180
12.
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Epilepsia
; 56(9): e114-20, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26122718
13.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Epilepsia Open
; 8(4): 1300-1313, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37501353
14.
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Eur J Neurosci
; 34(8): 1268-75, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21864321
15.
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
Epilepsia
; 52(4): e23-5, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21371021
16.
A retrospective population-based study on seizures related to childhood vaccination.
Epilepsia
; 52(8): 1506-12, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21692791
17.
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
Pediatr Int
; 52(2): 234-9, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-19563458
18.
Modifier genes in SCN1A-related epilepsy syndromes.
Mol Genet Genomic Med
; 8(4): e1103, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32032478
19.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Mol Genet Genomic Med
; 7(7): e00727, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31144463
20.
Discontinuous conduction in mouse bundle branches is caused by bundle-branch architecture.
Circulation
; 112(15): 2235-44, 2005 Oct 11.
Article
in English
| MEDLINE | ID: mdl-16203908