170 related articles for article (PubMed ID: 29390378)
1. Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
Zhang Y; Lian Y; Xie N
Medicine (Baltimore); 2017 Dec; 96(50):e9273. PubMed ID: 29390378
[TBL] [Abstract][Full Text] [Related]
2. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Papandreou A; McTague A; Trump N; Ambegaonkar G; Ngoh A; Meyer E; Scott RH; Kurian MA
Dev Med Child Neurol; 2016 Apr; 58(4):416-20. PubMed ID: 26645412
[TBL] [Abstract][Full Text] [Related]
3. Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Bamborschke D; Pergande M; Daimagüler HS; Mangold E; Dötsch J; Herkenrath P; Cirak S; Fazeli W
Neuropediatrics; 2019 Dec; 50(6):378-381. PubMed ID: 31319422
[TBL] [Abstract][Full Text] [Related]
4. GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y; Zeng Q; Cheng M; Niu X; Xiangwei W; Gong P; Li W; Ma J; Zhang X; Yang X; Yang Z; Sun D; Zhou S; Liao J; Jiang Y; Zhang Y
J Neurol; 2022 May; 269(5):2649-2665. PubMed ID: 34698933
[TBL] [Abstract][Full Text] [Related]
5. Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
Gupta S; Schwab M; Valdez-Gonzalez K; Segal E
Eur J Med Genet; 2020 Sep; 63(9):103970. PubMed ID: 32531460
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten M; Tacke M; Gerstl L; Hoelz H; Stülpnagel CV; Borggraefe I
Eur J Med Genet; 2020 Jan; 63(1):103628. PubMed ID: 30771507
[TBL] [Abstract][Full Text] [Related]
8. Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.
Chen C; Hao Y; Liang J; Liu X
Medicine (Baltimore); 2020 May; 99(22):e20507. PubMed ID: 32481472
[TBL] [Abstract][Full Text] [Related]
9. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M; Yamagata T; Kubota M; Arai H; Yamashita S; Nakagawa T; Fujii T; Sugai K; Imai K; Uster T; Chitayat D; Weiss S; Kashii H; Kusano R; Matsumoto A; Nakamura K; Oyazato Y; Maeno M; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Saito K; Hayasaka K; Matsumoto N; Saitsu H
Epilepsia; 2013 Jul; 54(7):1282-7. PubMed ID: 23621294
[TBL] [Abstract][Full Text] [Related]
10. A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy.
Suo G; Cao X; Zheng Y; Li H; Zhang Q; Tang J; Wu Y
Epilepsy Behav; 2021 Oct; 123():108245. PubMed ID: 34390894
[TBL] [Abstract][Full Text] [Related]
11. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM; Moody OA; Schuler E; Coryell J; Alexander JJ; Jenkins A; Escayg A
Brain; 2018 Aug; 141(8):2392-2405. PubMed ID: 29961870
[TBL] [Abstract][Full Text] [Related]
12. GABA
Nwosu GI; Shen W; Zavalin K; Poliquin S; Randhave K; Flamm C; Biven M; Langer K; Kang JQ
Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176165
[TBL] [Abstract][Full Text] [Related]
13. Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy.
Liu LL; Hou XL; Zhang DD; Sun GY; Zhou CL; Jiang Y; Tang ZZ; Zhang R; Cui Y
Chin Med J (Engl); 2017 Dec; 130(23):2808-2815. PubMed ID: 29176138
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS; Wuttke TV; Helbig I; Marini C; Johannesen KM; Brilstra EH; Vaher U; Borggraefe I; Talvik I; Talvik T; Kluger G; Francois LL; Lesca G; de Bellescize J; Blichfeldt S; Chatron N; Holert N; Jacobs J; Swinkels M; Betzler C; Syrbe S; Nikanorova M; Myers CT; Larsen LH; Vejzovic S; Pendziwiat M; von Spiczak S; Hopkins S; Dubbs H; Mang Y; Mukhin K; Holthausen H; van Gassen KL; Dahl HA; Tommerup N; Mefford HC; Rubboli G; Guerrini R; Lemke JR; Lerche H; Muhle H; Maljevic S
Neurology; 2017 Jan; 88(5):483-492. PubMed ID: 28053010
[TBL] [Abstract][Full Text] [Related]
16. Adult-onset autosomal dominant myoclonic epilepsy: report of a family with an overlooked epileptic syndrome.
Hsin YL; Chuang MF; Shyu WC; Lin CY; Chen YH; Harnod T
Seizure; 2007 Mar; 16(2):160-5. PubMed ID: 17174115
[TBL] [Abstract][Full Text] [Related]
17. A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
Pavone P; Pappalardo XG; Marino SD; Sciuto L; Corsello G; Ruggieri M; Parano E; Piccione M; Falsaperla R
Mol Genet Genomic Med; 2020 Nov; 8(11):e1461. PubMed ID: 32945607
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous GABA
Qu S; Jackson LG; Zhou C; Shen D; Shen W; Nwosu G; Howe R; Catron MA; Flamm C; Biven M; Kang JQ; Macdonald RL
Epilepsia; 2023 Apr; 64(4):1061-1073. PubMed ID: 36495145
[TBL] [Abstract][Full Text] [Related]
19. Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.
Dilena R; Striano P; Traverso M; Viri M; Cristofori G; Tadini L; Barbieri S; Romeo A; Zara F
Brain Dev; 2016 Jan; 38(1):128-31. PubMed ID: 26212315
[TBL] [Abstract][Full Text] [Related]
20. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
[No Abstract] [Full Text] [Related]
[Next] [New Search]
