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Journal Abstract Search

158 related items for PubMed ID: 34729751

  • 1. [Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
    Zhang P, Gao Z, Jia J, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov 10; 38(11):1097-1100. PubMed ID: 34729751
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  • 2. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
    Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2014 Sep 10; 18(5):567-71. PubMed ID: 24814476
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  • 3. De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
    Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD.
    BMC Med Genet; 2014 Mar 20; 15():35. PubMed ID: 24650168
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  • 5. 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 20; 98(8):e14698. PubMed ID: 30813219
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  • 6. Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors.
    Wang HG, Bavley CC, Li A, Jones RM, Hackett J, Bayleyen Y, Lee FS, Rajadhyaksha AM, Pitt GS.
    JCI Insight; 2021 Aug 09; 6(15):. PubMed ID: 34156984
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  • 8. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.
    Trevisson E, Forzan M, Salviati L, Clementi M.
    Clin Genet; 2014 Apr 09; 85(4):386-9. PubMed ID: 23621909
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  • 11. [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 02; 56(7):518-523. PubMed ID: 29996185
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  • 15. 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 02; 39(10):877-881. PubMed ID: 28709814
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