Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 214

1.

Intellectual disability without epilepsy associated with STXBP1 disruption.

Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL.

Eur J Hum Genet. 2011 May;19(5):607-9. doi: 10.1038/ejhg.2010.183. Epub 2011 Mar 2.

2.

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A.

Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005. Epub 2016 Apr 28.

PMID:
27184330
3.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

4.

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R.

Eur J Med Genet. 2013 Dec;56(12):683-5. doi: 10.1016/j.ejmg.2013.09.013. Epub 2013 Oct 3.

PMID:
24095819
5.

Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.

Ortega-Moreno L, Giráldez BG, Verdú A, García-Campos O, Sánchez-Martín G, Serratosa JM, Guerrero-López R.

Neurologia. 2016 Oct;31(8):523-7. doi: 10.1016/j.nrl.2014.10.017. Epub 2015 Jan 24. English, Spanish.

6.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.

Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Review.

7.

Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.

Dilena R, Striano P, Traverso M, Viri M, Cristofori G, Tadini L, Barbieri S, Romeo A, Zara F.

Brain Dev. 2016 Jan;38(1):128-31. doi: 10.1016/j.braindev.2015.07.002. Epub 2015 Jul 23.

PMID:
26212315
8.

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P.

Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.

PMID:
20876469
9.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL.

Ann Neurol. 2009 Jun;65(6):748-53. doi: 10.1002/ana.21625.

PMID:
19557857
10.

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L.

Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19.

11.

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.

J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29.

PMID:
24170257
12.

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

Otsuka M, Oguni H, Liang JS, Ikeda H, Imai K, Hirasawa K, Imai K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T.

Epilepsia. 2010 Dec;51(12):2449-52. doi: 10.1111/j.1528-1167.2010.02767.x. Epub 2010 Nov 3.

13.

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Héron D.

Epilepsia. 2011 Oct;52(10):1820-7. doi: 10.1111/j.1528-1167.2011.03163.x. Epub 2011 Jul 18.

14.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.

Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12.

PMID:
23161826
15.

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Barcia G, Chemaly N, Gobin S, Milh M, Van Bogaert P, Barnerias C, Kaminska A, Dulac O, Desguerre I, Cormier V, Boddaert N, Nabbout R.

Eur J Med Genet. 2014 Jan;57(1):15-20. doi: 10.1016/j.ejmg.2013.10.006. Epub 2013 Nov 1.

PMID:
24189369
16.

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF.

Neurogenetics. 2015 Jan;16(1):65-7. doi: 10.1007/s10048-014-0431-z. Epub 2014 Nov 25.

PMID:
25418441
17.

Paternal mosaicism of an STXBP1 mutation in OS.

Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N.

Clin Genet. 2011 Nov;80(5):484-8. doi: 10.1111/j.1399-0004.2010.01575.x. Epub 2010 Nov 10.

PMID:
21062273
18.

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R.

Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337.

PMID:
25714420
19.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL.

Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Erratum in: Am J Hum Genet. 2011 Apr 8;88(4):516.

20.

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

Tso WW, Kwong AK, Fung CW, Wong VC.

Pediatr Neurol. 2014 Feb;50(2):177-80. doi: 10.1016/j.pediatrneurol.2013.10.006. Epub 2013 Oct 24.

PMID:
24315539

Supplemental Content

Support Center