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Journal Abstract Search

550 related items for PubMed ID: 33410528

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  • 3. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
    Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH.
    J Inherit Metab Dis; 2020 Nov; 43(6):1333-1348. PubMed ID: 32681751
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  • 4. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epileptic Disord; 2020 Oct 01; 22(5):563-570. PubMed ID: 33000761
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  • 6. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan 01; 62(1):e13-e21. PubMed ID: 33280099
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  • 9. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
    Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.
    J Inherit Metab Dis; 2021 Jul 01; 44(4):1001-1012. PubMed ID: 33734437
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  • 12. The severe epilepsy syndromes of infancy: A population-based study.
    Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS.
    Epilepsia; 2021 Feb 01; 62(2):358-370. PubMed ID: 33475165
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  • 13. Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.
    Kacker S, Phitsanuwong C, Oetomo A, Nordli DR.
    Epileptic Disord; 2024 Feb 01; 26(1):98-108. PubMed ID: 38100275
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  • 15. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
    Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E.
    Mol Genet Metab; 2024 Jun 01; 142(2):108472. PubMed ID: 38703411
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  • 16. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH, Shin S, Yang D, Kim B, Kim HD, Kim S, Lee JS, Choi JR, Lee ST, Kang HC.
    Brain Dev; 2020 Jun 01; 42(6):438-448. PubMed ID: 32139178
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  • 17. ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet.
    Xie Y, Su T, Liu Y, Xu S.
    Seizure; 2024 Apr 01; 117():1-5. PubMed ID: 38262122
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  • 18. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
    Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE.
    Epilepsia; 2018 Jan 01; 59(1):e5-e13. PubMed ID: 29171013
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  • 19. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
    Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N.
    Eur J Hum Genet; 2016 Jan 01; 24(1):129-34. PubMed ID: 25966631
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  • 20. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
    Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N.
    Brain Dev; 2021 Apr 01; 43(4):505-514. PubMed ID: 33436160
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