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Journal Abstract Search

362 related items for PubMed ID: 27956748

  • 1. Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
    Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z.
    Mol Psychiatry; 2018 Feb; 23(2):231-239. PubMed ID: 27956748
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  • 2. Comparative analysis of the autism‑related variants between different autistic children in a family pedigree.
    Shen L, Li P, Zheng T, Luo M, Zhang S, Huang Y, Hu Y, Li H.
    Mol Med Rep; 2021 Oct; 24(4):. PubMed ID: 34368859
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  • 4. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
    Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ.
    Biol Psychiatry; 2017 Aug 01; 82(3):224-232. PubMed ID: 28256214
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  • 5. Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
    Mangano GD, Fontana A, Antona V, Salpietro V, Mangano GR, Giuffrè M, Nardello R.
    Mol Genet Genomic Med; 2022 May 01; 10(5):e1911. PubMed ID: 35348308
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  • 8. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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  • 10. Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7.
    He W, Young GT, Zhang B, Cox PJ, Cho LT, John S, Paciga SA, Wood LS, Danziger N, Scollen S, Vangjeli C.
    BMC Med Genet; 2018 Jul 23; 19(1):124. PubMed ID: 30037327
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  • 13. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C.
    J Psychiatry Neurosci; 2019 Sep 01; 44(5):350-359. PubMed ID: 31094488
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  • 14. Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.
    Koromina M, Flitton M, Blockley A, Mellor IR, Knight HM.
    Sci Rep; 2019 Dec 16; 9(1):19215. PubMed ID: 31844109
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  • 16. Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.
    Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG.
    J Neurosci; 2016 Jul 13; 36(28):7511-22. PubMed ID: 27413160
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  • 17. Familial gain-of-function Nav1.9 mutation in a painful channelopathy.
    Han C, Yang Y, Te Morsche RH, Drenth JP, Politei JM, Waxman SG, Dib-Hajj SD.
    J Neurol Neurosurg Psychiatry; 2017 Mar 13; 88(3):233-240. PubMed ID: 27503742
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  • 20. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
    Kim N, Kim KH, Lim WJ, Kim J, Kim SA, Yoo HJ.
    Genes (Basel); 2020 Dec 22; 12(1):. PubMed ID: 33374967
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