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Journal Abstract Search

172 related items for PubMed ID: 30818181

  • 21.
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  • 22. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.
    JAMA Neurol; 2016 Jul 01; 73(7):836-845. PubMed ID: 27159400
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  • 23. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
    Hertecant J, Komara M, Nagi A, Al-Zaabi O, Fathallah W, Cui H, Yang Y, Eng CM, Al Sorkhy M, Ghattas MA, Al-Gazali L, Ali BR.
    Eur J Med Genet; 2017 Apr 01; 60(4):212-216. PubMed ID: 28126652
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  • 27. SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
    Luo S, Ye XG, Jin L, Li H, He YY, Guan BZ, Gao LD, Liang XY, Wang PY, Lu XG, Yan HJ, Li BM, Chen YJ, Liu ZG.
    Front Mol Neurosci; 2023 Apr 01; 16():1162408. PubMed ID: 37213690
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  • 28. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
    Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, Baig S, Dahl N.
    J Neurol Sci; 2016 Dec 15; 371():105-111. PubMed ID: 27871429
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  • 30. De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
    McCormack M, McGinty RN, Zhu X, Slattery L, Heinzen EL, EPIGEN Consortium, Costello DJ, Delanty N, Cavalleri GL.
    Eur J Med Genet; 2020 Jan 15; 63(1):103625. PubMed ID: 30711678
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  • 31. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K.
    Am J Med Genet A; 2016 Aug 15; 170(8):2173-6. PubMed ID: 27250579
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  • 32. BRAT1 mutations present with a spectrum of clinical severity.
    Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S.
    Am J Med Genet A; 2016 Sep 15; 170(9):2265-73. PubMed ID: 27282546
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  • 33. Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.
    Nelson K, Jackman C, Bell J, Shih CS, Payne K, Dlouhy S, Walsh L.
    J Child Neurol; 2018 Dec 15; 33(14):925-929. PubMed ID: 30311510
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  • 36. Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
    Lv T, Fu JX, Liu XY, Tang R, Yang GL.
    Seizure; 2023 Aug 15; 110():126-135. PubMed ID: 37356182
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  • 37. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S.
    BMC Med Genet; 2015 Nov 05; 16():102. PubMed ID: 26542245
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  • 38.
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  • 39. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
    Jin HS, Lee JB, Kim K, Lee KY, Choi VN, Kim JS, Jeong SY, Yim SY.
    J Hum Genet; 2014 Dec 05; 59(12):643-7. PubMed ID: 25296583
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