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Best matches for dravet syndrome:

Dravet syndrome and its mimics: Beyond SCN1A. Steel D et al. Epilepsia. (2017)

Treatment of Dravet Syndrome. Wirrell EC et al. Can J Neurol Sci. (2016)

Dravet Syndrome: Diagnosis and Long-Term Course. Connolly MB et al. Can J Neurol Sci. (2016)

Search results

Items: 1 to 20 of 5246

1.

Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants.

Myers KA, Shevell MI, Sébire G.

Epilepsy Res. 2019 Jan 14;150:66-69. doi: 10.1016/j.eplepsyres.2019.01.009. [Epub ahead of print]

PMID:
30660056
2.

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies.

Salgueiro-Pereira AR, Duprat F, Pousinha P, Loucif A, Douchamps V, Regondi C, Ayrault M, Eugie M, Stunault MI, Escayg A, Goutagny R, Gnatkovsky V, Frassoni C, Marie H, Bethus I, Mantegazza M.

Neurobiol Dis. 2019 Jan 16. pii: S0969-9961(19)30012-9. doi: 10.1016/j.nbd.2019.01.006. [Epub ahead of print]

PMID:
30659983
3.

Motor development in children with Dravet syndrome.

Verheyen K, Verbecque E, Ceulemans B, Schoonjans AS, Van De Walle P, Hallemans A.

Dev Med Child Neurol. 2019 Jan 15. doi: 10.1111/dmcn.14147. [Epub ahead of print]

PMID:
30644536
4.

Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need.

Brunklaus A.

Eur J Paediatr Neurol. 2019 Jan;23(1):6. doi: 10.1016/j.ejpn.2018.12.009. No abstract available.

PMID:
30642535
5.

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. doi: 10.1186/s12881-019-0745-7.

6.

Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on neuropsychological development.

Liu F, Peng J, Zhu C, Xiao H, He F, Yin F, Chen C.

Epilepsy Behav. 2019 Jan 11;92:98-102. doi: 10.1016/j.yebeh.2018.12.016. [Epub ahead of print]

PMID:
30641252
7.

Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain.

Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, Mistry A, Barker G, Shepherd J, Gil A.

Rev Neurol. 2019 Jan 16;68(2):75-81. Spanish, English.

8.

Epidiolex (Cannabidiol): A New Hope for Patients With Dravet or Lennox-Gastaut Syndromes.

Chen JW, Borgelt LM, Blackmer AB.

Ann Pharmacother. 2019 Jan 8:1060028018822124. doi: 10.1177/1060028018822124. [Epub ahead of print]

PMID:
30616356
9.

Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study.

Lagae L, Irwin J, Gibson E, Battersby A.

Seizure. 2018 Dec 19;65:72-79. doi: 10.1016/j.seizure.2018.12.018. [Epub ahead of print]

PMID:
30616222
10.

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations.

Spagnoli C, Frattini D, Rizzi S, Salerno GG, Fusco C.

Seizure. 2019 Jan 2;65:62-64. doi: 10.1016/j.seizure.2019.01.002. [Epub ahead of print] No abstract available.

PMID:
30612077
11.

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.

Ritter-Makinson S, Clemente-Perez A, Higashikubo B, Cho FS, Holden SS, Bennett E, Chkaidze A, Eelkman Rooda OHJ, Cornet MC, Hoebeek FE, Yamakawa K, Cilio MR, Delord B, Paz JT.

Cell Rep. 2019 Jan 2;26(1):54-64.e6. doi: 10.1016/j.celrep.2018.12.018.

12.

Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial.

Devinsky O, Nabbout R, Miller I, Laux L, Zolnowska M, Wright S, Roberts C.

Epilepsia. 2018 Dec 23. doi: 10.1111/epi.14628. [Epub ahead of print]

PMID:
30582156
13.

Behavior problems and health-related quality of life in Dravet syndrome.

Sinoo C, de Lange IM, Westers P, Gunning WB, Jongmans MJ, Brilstra EH.

Epilepsy Behav. 2018 Dec 18. pii: S1525-5050(18)30831-X. doi: 10.1016/j.yebeh.2018.11.029. [Epub ahead of print]

PMID:
30578097
14.

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.

Jiang T, Shen Y, Chen H, Yuan Z, Mao S, Gao F.

Medicine (Baltimore). 2018 Dec;97(50):e13565. doi: 10.1097/MD.0000000000013565.

15.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.

Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec.

16.

Epileptology of the first tonic-clonic seizure in adults and prediction of seizure recurrence.

Koutroumanidis M, Bruno E.

Epileptic Disord. 2018 Dec 1;20(6):490-501. doi: 10.1684/epd.2018.1014.

PMID:
30530414
17.

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

Chemaly N, Losito E, Pinard JM, Gautier A, Villeneuve N, Arbues AS, An I, Desguerre I, Dulac O, Chiron C, Kaminska A, Nabbout R.

Epileptic Disord. 2018 Dec 1;20(6):457-467. doi: 10.1684/epd.2018.1009.

PMID:
30530412
18.

Psychosocial complications in juvenile myoclonic epilepsy.

Syvertsen M, Selmer K, Enger U, Nakken KO, Pal DK, Smith A, Koht J.

Epilepsy Behav. 2018 Dec 7;90:122-128. doi: 10.1016/j.yebeh.2018.11.022. [Epub ahead of print]

PMID:
30530133
19.

RNA-seq Analysis of the SCN1A-KO Model based on CRISPR/Cas9 Genome Editing Technology.

Shi X, He W, Guo S, Zhang B, Ren S, Liu K, Sun T, Cui J.

Neuroscience. 2019 Feb 1;398:1-11. doi: 10.1016/j.neuroscience.2018.11.052. Epub 2018 Dec 8.

PMID:
30529264
20.

Outcomes and comorbidities of SCN1A-related seizure disorders.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Sinoo C, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH.

Epilepsy Behav. 2018 Dec 4. pii: S1525-5050(18)30647-4. doi: 10.1016/j.yebeh.2018.09.041. [Epub ahead of print]

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