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Page 1
Brugada Syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K. Brugada R, et al. 2005 Mar 31 [updated 2022 Aug 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Mar 31 [updated 2022 Aug 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301690 Free Books & Documents. Review.
Surveillance: EKG monitoring every one to two years for at-risk individuals with a family history of Brugada syndrome or who have a known pathogenic variant that can lead to Brugada syndrome. Agents/circumstances to avoid: High fever, vagotonic agents, alpha-adrenergic ago …
Surveillance: EKG monitoring every one to two years for at-risk individuals with a family history of Brugada syndrome or who have a known pa …
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A, Sculier C, Bouza AA, Askar B, Lederer D, Schoonjans AS, Vander Ghinst M, Ceulemans B, Offord J, Lopez-Santiago LF, Isom LL. Aeby A, et al. Ann Clin Transl Neurol. 2019 Dec;6(12):2354-2367. doi: 10.1002/acn3.50921. Epub 2019 Nov 11. Ann Clin Transl Neurol. 2019. PMID: 31709768 Free PMC article.
METHODS: Here, we describe the detailed electroclinical features of a biallelic SCN1B patient with a previously unreported variant, p.Arg85Cys. RESULTS: The female proband showed hypotonia from birth, multifocal myoclonus at 2.5 months, then focal seizures and myoclonic st …
METHODS: Here, we describe the detailed electroclinical features of a biallelic SCN1B patient with a previously unreported variant, p …
Dravet syndrome and its mimics: Beyond SCN1A.
Steel D, Symonds JD, Zuberi SM, Brunklaus A. Steel D, et al. Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. Epilepsia. 2017. PMID: 28880996 Review.
RESULTS: Genes that have been reported to cause DS-like phenotypes include SCN2A, SCN8A, SCN9A, SCN1B, PCDH19, GABRA1, GABRG2, STXBP1, HCN1, CHD2, and KCNA2. Many of these genes, however, appear to be associated with their own, different, clinical picture. ...
RESULTS: Genes that have been reported to cause DS-like phenotypes include SCN2A, SCN8A, SCN9A, SCN1B, PCDH19, GABRA1, GABRG2, STXBP1 …
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR. Darras N, et al. Am J Med Genet A. 2019 Nov;179(11):2190-2195. doi: 10.1002/ajmg.a.61344. Epub 2019 Aug 29. Am J Med Genet A. 2019. PMID: 31465153
We present two siblings who are homozygous for a novel, missense variant in SCN1B, c.265C>T, predicting p.Arg89Cys. The proband is an 11-year-old female with infantile-onset, fever-induced, intractable generalized tonic-clonic seizures, myoclonic seizures, and de …
We present two siblings who are homozygous for a novel, missense variant in SCN1B, c.265C>T, predicting p.Arg89Cys. The proband is …
New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.
Fendri-Kriaa N, Kammoun F, Salem IH, Kifagi C, Mkaouar-Rebai E, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Eur J Neurol. 2011 May;18(5):695-702. doi: 10.1111/j.1468-1331.2010.03216.x. Epub 2010 Oct 6. Eur J Neurol. 2011. PMID: 21040232
According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was …
According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B …
beta1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.
Kruger LC, O'Malley HA, Hull JM, Kleeman A, Patino GA, Isom LL. Kruger LC, et al. J Neurosci. 2016 Jun 8;36(23):6213-24. doi: 10.1523/JNEUROSCI.0405-16.2016. J Neurosci. 2016. PMID: 27277800 Free PMC article.
Autosomal-dominant SCN1B-C121W, the first epilepsy-associated VGSC mutation identified, results in genetic epilepsy with febrile seizures plus (GEFS+). This mutation has been shown to disrupt both the sodium-current-modulatory and cell-adhesive functions of beta1 subunits …
Autosomal-dominant SCN1B-C121W, the first epilepsy-associated VGSC mutation identified, results in genetic epilepsy with febrile seiz …
Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India.
Gowda VK, Battina M, Vegda H, Srinivasan VM, Chikara SK, Mishra A, Shivappa SK, Benakappa N. Gowda VK, et al. J Pediatr Genet. 2021 Jun 22;12(1):32-41. doi: 10.1055/s-0041-1731020. eCollection 2023 Mar. J Pediatr Genet. 2021. PMID: 36684540 Free PMC article.
A total of 50 cases of SCN developmental and epileptic encephalopathies were analyzed, 31 of them were male and the mean age of presentation was 7.8 months. Precipitating factors for the first episode of seizure were fever and vaccination accounting for 33 and 8 children, …
A total of 50 cases of SCN developmental and epileptic encephalopathies were analyzed, 31 of them were male and the mean age of presentation …
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698
We recently described a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS+), in which many family members have seizures with fever that may persist beyond six years of age or be associated with afebrile generalized seizures. We now report linkag …
We recently described a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS+), in which many family members have s …
Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants.
Myers KA, Shevell MI, Sébire G. Myers KA, et al. Epilepsy Res. 2019 Feb;150:66-69. doi: 10.1016/j.eplepsyres.2019.01.009. Epub 2019 Jan 14. Epilepsy Res. 2019. PMID: 30660056
The latter died at 22 months of age and was classified as definite SUDEP. Molecular genetic testing identified a pathogenic SCN1B variant. In Family B, two brothers had recurrent focal status epilepticus with fever, and were classified as having atypical multifocal …
The latter died at 22 months of age and was classified as definite SUDEP. Molecular genetic testing identified a pathogenic SCN1B var …
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. ...Our results thus implicate STX1B and the presyn …
Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B …
20 results