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Items: 1 to 20 of 99

1.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W.

Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.

PMID:
30928199
2.

Episodic ataxia associated with a de novo SCN2A mutation.

Leach EL, van Karnebeek CD, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT.

Eur J Paediatr Neurol. 2016 Sep;20(5):772-6. doi: 10.1016/j.ejpn.2016.05.020. Epub 2016 Jun 14.

PMID:
27328862
3.

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

Fazeli W, Becker K, Herkenrath P, Düchting C, Körber F, Landgraf P, Nürnberg P, Altmüller J, Thiele H, Koy A, Liebau MC, Simon T, Dötsch J, Cirak S.

Neuropediatrics. 2018 Dec;49(6):379-384. doi: 10.1055/s-0038-1668141. Epub 2018 Aug 30.

PMID:
30165711
4.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS.

J Neurol. 2016 Feb;263(2):334-343. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8.

PMID:
26645390
5.

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.

Maksemous N, Smith RA, Sutherland HG, Sampaio H, Griffiths LR.

Int J Mol Sci. 2018 Oct 11;19(10). pii: E3113. doi: 10.3390/ijms19103113.

6.

[Phenotype study of SCN2A gene related epilepsy].

Zeng Q, Zhang YH, Yang XL, Zhang J, Liu AJ, Liu XY, Jiang YW, Wu XR.

Zhonghua Er Ke Za Zhi. 2018 Jul 2;56(7):518-523. doi: 10.3760/cma.j.issn.0578-1310.2018.07.009. Chinese.

PMID:
29996185
7.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 7 [updated 2018 Feb 22].

8.

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Tchapyjnikov D, Mikati MA.

Neurologist. 2018 Jan;23(1):17-18. doi: 10.1097/NRL.0000000000000168. Review.

PMID:
29266039
9.

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

Suddaby JS, Silver J, So J.

Psychiatr Genet. 2019 Jun;29(3):91-94. doi: 10.1097/YPG.0000000000000219.

PMID:
30741786
10.

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

Huang Q, Yu L, Ma M, Qi H, Wu Y.

Medicine (Baltimore). 2019 Feb;98(8):e14698. doi: 10.1097/MD.0000000000014698.

11.

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Begemann A, Acuña MA, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, Abela L, Plecko B, Kroell-Seger J, Baumer A, Yamakawa K, Inoue Y, Asadollahi R, Sticht H, Zeilhofer HU, Rauch A.

Mol Med. 2019 Feb 27;25(1):6. doi: 10.1186/s10020-019-0073-6.

12.

[Hereditary episodic ataxia].

Riant F, Vahedi K, Tournier-Lasserve E.

Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13. Review. French.

PMID:
21492892
13.

The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.

Liang JS, Lin LJ, Yang MT, Wang JS, Lu JF.

Brain Dev. 2017 Nov;39(10):877-881. doi: 10.1016/j.braindev.2017.06.003. Epub 2017 Jul 11.

PMID:
28709814
14.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J.

Neurology. 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12.

15.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

16.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
17.

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.

Hum Genome Var. 2018 Jul 20;5:20. doi: 10.1038/s41439-018-0019-5. eCollection 2018.

18.

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators.

Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26.

19.

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.

Tatsukawa T, Raveau M, Ogiwara I, Hattori S, Miyamoto H, Mazaki E, Itohara S, Miyakawa T, Montal M, Yamakawa K.

Mol Autism. 2019 Mar 28;10:15. doi: 10.1186/s13229-019-0265-5. eCollection 2019.

20.

CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.

Scoggan KA, Friedman JH, Bulman DE.

Can J Neurol Sci. 2006 Feb;33(1):68-72.

PMID:
16583725

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