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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

117 related items for PubMed ID: 28078312

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  • 2. Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
    Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M.
    Genes (Basel); 2022 Sep 11; 13(9):. PubMed ID: 36140801
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  • 7. Novel SCN10A variants associated with Brugada syndrome.
    Fukuyama M, Ohno S, Makiyama T, Horie M.
    Europace; 2016 Jun 11; 18(6):905-11. PubMed ID: 25842276
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  • 9. De novo DNM1 mutations in two cases of epileptic encephalopathy.
    Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
    Epilepsia; 2016 Jan 11; 57(1):e18-23. PubMed ID: 26611353
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  • 11. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
    Epilepsia; 2014 Jul 11; 55(7):994-1000. PubMed ID: 24888894
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  • 14. A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
    Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT.
    J Gen Physiol; 2015 Nov 11; 146(5):399-410. PubMed ID: 26503721
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  • 16. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
    Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE.
    Lancet Neurol; 2006 Jun 11; 5(6):488-92. PubMed ID: 16713920
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  • 19. Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.
    Wagner M, Gusic M, Günthner R, Alhaddad B, Kovacs-Nagy R, Makowski C, Baumeister F, Strom T, Meitinger T, Prokisch H, Wortmann SB.
    Neuropediatrics; 2018 Feb 11; 49(1):59-62. PubMed ID: 28915517
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