183 related articles for article (PubMed ID: 37593999)
1. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L; Bi S; Lin L; He F; Deng F
Mol Genet Genomic Med; 2023 Dec; 11(12):e2269. PubMed ID: 37593999
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.
Liu X; Shen Q; Zheng G; Guo H; Lu X; Wang X; Yang X; Cao Z; Chen J
Front Neurol; 2021; 12():633637. PubMed ID: 34163418
[No Abstract] [Full Text] [Related]
4. Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
Arafat A; Jing P; Ma Y; Pu M; Nan G; Fang H; Chen C; Fei Y
Sci Rep; 2017 Apr; 7():46227. PubMed ID: 28387369
[TBL] [Abstract][Full Text] [Related]
5. Homozygosity for a Novel
Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W
Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387
[TBL] [Abstract][Full Text] [Related]
6. 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; 42(6):438-448. PubMed ID: 32139178
[TBL] [Abstract][Full Text] [Related]
7. The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M; Al Qahtani XS; Almakdob S; Altwaijri W; Ba-Armah DM; Hundallah K; Al Hashem A; Al Tala S; Maddirevula S; Alkuraya FS; Tabarki B; Alfadhel M
Seizure; 2019 Jul; 69():154-172. PubMed ID: 31054490
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.
Hu C; Liu D; Luo T; Wang Y; Liu Z
Epileptic Disord; 2022 Apr; 24(2):343-352. PubMed ID: 34859793
[TBL] [Abstract][Full Text] [Related]
10. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
[TBL] [Abstract][Full Text] [Related]
11. The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R; Chen W; Nakano Y; Reyes LD; Petralia RS; Wang YX; Starost MF; Wafa TT; Morell RJ; Cravedi KD; du Hoffmann J; Miyoshi T; Munasinghe JP; Fitzgerald TS; Chudasama Y; Omori K; Pierpaoli C; Banfi B; Dong L; Belyantseva IA; Friedman TB
Hum Mol Genet; 2019 May; 28(9):1530-1547. PubMed ID: 30602030
[TBL] [Abstract][Full Text] [Related]
12. Boricua Founder Variant in
Abdelmoumen I; Jimenez S; Valencia I; Melvin J; Legido A; Diaz-Diaz MM; Griffith C; Massingham LJ; Yelton M; Rodríguez-Hernández J; Schnur RE; Walsh LE; Cristancho AG; Bergqvist CA; McWalter K; Mathieson I; Belbin GM; Kenny EE; Ortiz-Gonzalez XR; Schneider MC
J Child Neurol; 2021 Feb; 36(2):93-98. PubMed ID: 32928027
[TBL] [Abstract][Full Text] [Related]
13. New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
Alagoz M; Kherad N; Bozkurt S; Yuksel A
Acta Biochim Pol; 2020 Sep; 67(3):431-434. PubMed ID: 32931186
[TBL] [Abstract][Full Text] [Related]
14. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
[TBL] [Abstract][Full Text] [Related]
15. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S; Patel J; Cordeiro D; Hewson S; Callen D; Donner EJ; Hahn CD; Kannu P; Kobayashi J; Minassian BA; Moharir M; Siriwardena K; Weiss SK; Weksberg R; Snead OC
Epilepsia; 2015 May; 56(5):707-16. PubMed ID: 25818041
[TBL] [Abstract][Full Text] [Related]
16. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.
Essajee F; Urban M; Smit L; Wilmshurst JM; Solomons R; van Toorn R; Moosa S
Seizure; 2022 Oct; 101():197-204. PubMed ID: 36084525
[TBL] [Abstract][Full Text] [Related]
17. Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E; Nouri N; Movahedinia M; Dadbinpour A; Vahidi Mehrjardi MY
Mol Genet Genomic Med; 2024 Feb; 12(2):e2412. PubMed ID: 38400608
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
Juanes M; Loos M; Reyes G; Veneruzzo G; García FM; Aschettino G; Calligaris S; Martín ME; Foncuberta ME; Alonso CN; Caraballo RH
Medicina (B Aires); 2022; 82(6):856-865. PubMed ID: 36571524
[TBL] [Abstract][Full Text] [Related]
19. Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
Chouery E; Mehawej C; Sabbagh S; Bleik J; Megarbane A
Eur J Neurol; 2022 Aug; 29(8):2486-2492. PubMed ID: 35638367
[TBL] [Abstract][Full Text] [Related]
20. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
