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Journal Abstract Search

129 related items for PubMed ID: 30530430

  • 1. Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome.
    Jan S, Ochi A, Kagawa K, Gill P, Guttmann A, Otsubo H, Kobayashi J.
    Epileptic Disord; 2018 Dec 01; 20(6):530-534. PubMed ID: 30530430
    [Abstract] [Full Text] [Related]

  • 2. Infantile ictal apneas in a child with williams-beuren syndrome.
    Myers KA, McLeod DR, Bello-Espinosa L.
    Pediatr Neurol; 2013 Feb 01; 48(2):149-51. PubMed ID: 23337011
    [Abstract] [Full Text] [Related]

  • 3. SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
    Su DJ, Lu JF, Lin LJ, Liang JS, Hung KL.
    Brain Dev; 2018 Sep 01; 40(8):724-727. PubMed ID: 29625812
    [Abstract] [Full Text] [Related]

  • 4. Case Report.
    Datta A, Ferguson A, Simonson C, Zannotto F, Michoulas A, Roland E, Karnebeek CV, Salvarinova R.
    J Child Neurol; 2017 Mar 01; 32(4):403-407. PubMed ID: 28056632
    [Abstract] [Full Text] [Related]

  • 5. Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.
    Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y.
    Epileptic Disord; 2017 Sep 01; 19(3):339-344. PubMed ID: 28721930
    [Abstract] [Full Text] [Related]

  • 6. Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
    Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan JF, Troester M.
    Epileptic Disord; 2016 Sep 01; 18(3):324-8. PubMed ID: 27502353
    [Abstract] [Full Text] [Related]

  • 7. Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome.
    Yan N, Xin-Hua W, Lin-Mei Z, Yi-Ming C, Wen-Hui L, Yuan-Feng Z, Shui-Zhen Z.
    Seizure; 2018 Aug 01; 60():144-148. PubMed ID: 29990707
    [Abstract] [Full Text] [Related]

  • 8. [Study on concordance of ictal and interictal epileptiform activity in patients with tuberous sclerosis complex].
    Yang Z, Guo Q, Zhuang J, Liu X, Xiong H, Wu Y, Wang S, Chang X, Zhang Y, Bao X, Jiang Y, Qin J.
    Zhonghua Er Ke Za Zhi; 2014 Apr 01; 52(4):292-7. PubMed ID: 24915918
    [Abstract] [Full Text] [Related]

  • 9. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
    Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, Carrizosa J, Elia M, Craiu D, Jovic NJ, Nordli D, Hirtz D, Wong V, Glauser T, Mizrahi EM, Cross JH.
    Epilepsia; 2015 Aug 01; 56(8):1185-97. PubMed ID: 26122601
    [Abstract] [Full Text] [Related]

  • 10. Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features.
    Dupont S, Banica-Wolters R, An-Gourfinkel I, Lambrecq V, Navarro V, Adam C, Nguyen-Michel VH.
    J Neurol; 2017 Jul 01; 264(7):1388-1396. PubMed ID: 28584915
    [Abstract] [Full Text] [Related]

  • 11. Ketogenic diet efficacy in the treatment of intractable epileptic spasms.
    Kayyali HR, Gustafson M, Myers T, Thompson L, Williams M, Abdelmoity A.
    Pediatr Neurol; 2014 Mar 01; 50(3):224-7. PubMed ID: 24433856
    [Abstract] [Full Text] [Related]

  • 12. Diaper changing-induced reflex seizures in CDKL5-related epilepsy.
    Solazzi R, Fiorini E, Parrini E, Darra F, Dalla Bernardina B, Cantalupo G.
    Epileptic Disord; 2018 Oct 01; 20(5):428-433. PubMed ID: 30378547
    [Abstract] [Full Text] [Related]

  • 13. [Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].
    Wang SQ, Yang ZX, Li H.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):899-903. PubMed ID: 29045977
    [Abstract] [Full Text] [Related]

  • 14. Association of cortical spreading depression and seizures in patients with medically intractable epilepsy.
    Bastany ZJR, Askari S, Dumont GA, Kellinghaus C, Kazemi A, Gorji A.
    Clin Neurophysiol; 2020 Dec 18; 131(12):2861-2874. PubMed ID: 33152524
    [Abstract] [Full Text] [Related]

  • 15. Recurrent achalasia in a child with Williams-Beuren syndrome.
    Pereza N, Barbarić I, Ostojić S, Cace N, Kapović M.
    Coll Antropol; 2011 Sep 18; 35(3):941-4. PubMed ID: 22053584
    [Abstract] [Full Text] [Related]

  • 16. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
    Altıntaş M, Yıldırım M, Uçar Çİ, Köse E, Bektaş Ö, Teber S.
    Clin Neurol Neurosurg; 2023 Jul 18; 230():107772. PubMed ID: 37167844
    [Abstract] [Full Text] [Related]

  • 17. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.
    Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C.
    Eur J Med Genet; 2016 Oct 18; 59(10):549-53. PubMed ID: 27613244
    [Abstract] [Full Text] [Related]

  • 18. Ketogenic diet effects on neurobehavioral development of children with intractable epilepsy: A prospective study.
    Zhu D, Wang M, Wang J, Yuan J, Niu G, Zhang G, Sun L, Xiong H, Xie M, Zhao Y.
    Epilepsy Behav; 2016 Feb 18; 55():87-91. PubMed ID: 26773676
    [Abstract] [Full Text] [Related]

  • 19. A case of perioral myoclonia with absences and its evolution in adulthood?
    Surmelı R, Kurucu H, Yalcın AD, Yenı SN.
    Epileptic Disord; 2018 Jun 01; 20(3):195-199. PubMed ID: 29905155
    [Abstract] [Full Text] [Related]

  • 20. Aggravation of atonic seizures by rufinamide: A case report.
    Bektaş G, Çalışkan M, Aydın A, Pembegül Yıldız E, Tatlı B, Aydınlı N, Özmen M.
    Brain Dev; 2016 Aug 01; 38(7):654-7. PubMed ID: 26906013
    [Abstract] [Full Text] [Related]

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