245 related articles for article (PubMed ID: 33728858)
1. [Experience in the management of patients with genetic epilepsies and epileptic encephalopathies in the outpatient practice].
Rakhmanina OA; Volkov IV; Shestakova OI; Tomenko TR; Paniukova IV; Volkova OK; Belyaev OV; Omelchenko NN; Lebedev IA
Zh Nevrol Psikhiatr Im S S Korsakova; 2021; 121(2):99-105. PubMed ID: 33728858
[TBL] [Abstract][Full Text] [Related]
2. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Zucca C; Redaelli F; Epifanio R; Zanotta N; Romeo A; Lodi M; Veggiotti P; Airoldi G; Panzeri C; Romaniello R; De Polo G; Bonanni P; Cardinali S; Baschirotto C; Martorell L; Borgatti R; Bresolin N; Bassi MT
Arch Neurol; 2008 Apr; 65(4):489-94. PubMed ID: 18413471
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
[TBL] [Abstract][Full Text] [Related]
4. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
5. The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA; McMahon JM; Iona X; Dibbens L; Pelekanos JT; Zuberi SM; Sadleir LG; Andermann E; Gill D; Farrell K; Connolly M; Stanley T; Harbord M; Andermann F; Wang J; Batish SD; Jones JG; Seltzer WK; Gardner A; ; Sutherland G; Berkovic SF; Mulley JC; Scheffer IE
Brain; 2007 Mar; 130(Pt 3):843-52. PubMed ID: 17347258
[TBL] [Abstract][Full Text] [Related]
6. SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
Usluer S; Salar S; Arslan M; Yiş U; Kara B; Tektürk P; Baykan B; Meral C; Türkdoğan D; Bebek N; Yalçın Çapan Ö; Gündoğdu Eken A; Çağlayan SH
Seizure; 2016 Jul; 39():34-43. PubMed ID: 27236449
[TBL] [Abstract][Full Text] [Related]
7. Early-Life Epilepsies.
Akiyama LF; Saneto RP
Pediatr Ann; 2023 Oct; 52(10):e381-e387. PubMed ID: 37820708
[TBL] [Abstract][Full Text] [Related]
8. Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
Terczyńska I; Szczepanik E; Duszyc K; Górka P; Tataj R; Hoffman-Zacharska D
Dev Period Med; 2014; 18(4):426-31. PubMed ID: 25874779
[TBL] [Abstract][Full Text] [Related]
9. What are the predominant predictors of seizure relapse following discontinuation of anti-seizure medication in epileptic children?
Kanmaz S; Toprak DE; Olculu CB; Dokurel I; Simsek E; Serin HM; Yılmaz S; Aktan G; Gokben S; Tekgul H
Epileptic Disord; 2023 Apr; 25(2):218-228. PubMed ID: 37358927
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K; Marini C; Pfeffer S; Møller RS; Dorn T; Niturad CE; Gardella E; Weber Y; Søndergård M; Hjalgrim H; Nikanorova M; Becker F; Larsen LH; Dahl HA; Maier O; Mei D; Biskup S; Klein KM; Reif PS; Rosenow F; Elias AF; Hudson C; Helbig KL; Schubert-Bast S; Scordo MR; Craiu D; Djémié T; Hoffman-Zacharska D; Caglayan H; Helbig I; Serratosa J; Striano P; De Jonghe P; Weckhuysen S; Suls A; Muru K; Talvik I; Talvik T; Muhle H; Borggraefe I; Rost I; Guerrini R; Lerche H; Lemke JR; Rubboli G; Maljevic S
Neurology; 2016 Sep; 87(11):1140-51. PubMed ID: 27521439
[TBL] [Abstract][Full Text] [Related]
11. [Analysis of gene mutation of early onset epileptic spasm with unknown reason].
Yang X; Pan G; Li WH; Zhang LM; Wu BB; Wang HJ; Zhang P; Zhou SZ
Zhonghua Er Ke Za Zhi; 2017 Nov; 55(11):813-817. PubMed ID: 29141310
[No Abstract] [Full Text] [Related]
12. Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.
Çapan ÖY; Türkdoğan D; Atalay S; Çağlayan HS
Seizure; 2024 Mar; 116():126-132. PubMed ID: 37977948
[TBL] [Abstract][Full Text] [Related]
13. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
[TBL] [Abstract][Full Text] [Related]
14. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA; Jensson BO; Marelsson SE; Sulem G; Oddsson A; Kristjansson RP; Benonisdottir S; Gudjonsson SA; Masson G; Thorisson GA; Saemundsdottir J; Magnusson OT; Jonasdottir A; Jonasdottir A; Sigurdsson A; Gudbjartsson DF; Thorsteinsdottir U; Arngrimsson R; Sulem P; Stefansson K
BMC Med Genet; 2017 Oct; 18(1):103. PubMed ID: 28965491
[TBL] [Abstract][Full Text] [Related]
15. Clinical management of epileptic encephalopathies of childhood and infancy.
Covanis A
Expert Rev Neurother; 2014 Jun; 14(6):687-701. PubMed ID: 24852231
[TBL] [Abstract][Full Text] [Related]
16. Developmental and epileptic encephalopathies: what we do and do not know.
Specchio N; Curatolo P
Brain; 2021 Feb; 144(1):32-43. PubMed ID: 33279965
[TBL] [Abstract][Full Text] [Related]
17. [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].
Terczyńska I; Mierzewska H; Szczepanik E; Antczak-Marach D
Przegl Lek; 2010; 67(9):757-61. PubMed ID: 21387820
[TBL] [Abstract][Full Text] [Related]
18. SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE; Nabbout R
Epilepsia; 2019 Dec; 60 Suppl 3():S17-S24. PubMed ID: 31904117
[TBL] [Abstract][Full Text] [Related]
19. [Epileptic syndromes in childhood associated with secondary generalized tonic-clonic seizures].
Mironov MB; Burd SG; Klimov YA; Krasilshikova TM; Bobylova MY; Rubleva YV; Gunchenko MM; Sarzhina MN; Batysheva TT
Zh Nevrol Psikhiatr Im S S Korsakova; 2017; 117(11. Vyp. 2):23-32. PubMed ID: 29359716
[TBL] [Abstract][Full Text] [Related]
20. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A; Bayat M; Rubboli G; Møller RS
Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356067
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
