118 related articles for article (PubMed ID: 37982109)
1. Exploring the Spectrum of
de Pedro Baena S; Sariego Jamardo A; Castro P; López González FJ; Sánchez Carpintero R; Cerisola A; Troncoso M; Witting S; Barrios A; Fons C; López Pisón J; Ortigoza-Escobar JD
Mov Disord Clin Pract; 2023 Nov; 10(11):1671-1679. PubMed ID: 37982109
[TBL] [Abstract][Full Text] [Related]
2. RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report.
Fonseca J; Melo C; Ferreira C; Sampaio M; Sousa R; Leão M
J Pediatr Genet; 2023 Jun; 12(2):155-158. PubMed ID: 37090824
[TBL] [Abstract][Full Text] [Related]
3.
Zagaglia S; Steel D; Krithika S; Hernandez-Hernandez L; Custodio HM; Gorman KM; Vezyroglou A; Møller RS; King MD; Hammer TB; Spaull R; Fazeli W; Bartolomaeus T; Doummar D; Keren B; Mignot C; Bednarek N; Cross JH; Mallick AA; Sanchis-Juan A; Basu A; Raymond FL; Lynch BJ; Majumdar A; Stamberger H; Weckhuysen S; Sisodiya SM; Kurian MA
Neurology; 2021 Mar; 96(11):e1539-e1550. PubMed ID: 33504645
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F; Heron D; Mignot C; Keren B; Brooks S; Botti C; Ben-Zeev B; Argilli E; Sherr EH; Gowda VK; Srinivasan VM; Bakhtiari S; Kruer MC; Salih MA; Kuechler A; Muller EA; Blocker K; Kuismin O; Park KL; Kochhar A; Brown K; Ramanathan S; Clark RD; Elgizouli M; Melikishvili G; Tabatadze N; Stark Z; Mirzaa GM; Ong J; Grasshoff U; Bevot A; von Wintzingerode L; Jamra RA; Hennig Y; Goldenberg P; Al Alam C; Charif M; Boulouiz R; Bellaoui M; Amrani R; Al Mutairi F; Tamim AM; Abdulwahab F; Alkuraya FS; Khouj EM; Alvi JR; Sultan T; Hashemi N; Karimiani EG; Ashrafzadeh F; Imannezhad S; Efthymiou S; Houlden H; Sticht H; Zweier C
Genet Med; 2023 Aug; 25(8):100885. PubMed ID: 37165955
[TBL] [Abstract][Full Text] [Related]
5. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
Knijnenburg ACS; Nicolai J; Bok LA; Bay A; Stegmann APA; Sinnema M; Vreeburg M
Neurol Genet; 2020 Jun; 6(3):e418. PubMed ID: 32337345
[TBL] [Abstract][Full Text] [Related]
6. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H; Nakashima M; Matsumoto H; Yokochi K; Taniguchi-Ikeda M; Aoto K; Amin MB; Maruyama A; Nagase H; Mizuguchi T; Miyatake S; Miyake N; Iijima K; Nonoyama S; Matsumoto N; Saitsu H
Hum Mutat; 2018 Aug; 39(8):1070-1075. PubMed ID: 29768694
[TBL] [Abstract][Full Text] [Related]
7. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J; Konrad EDH; Grüner J; Toutain A; Bok LA; Cho MT; Crawford HP; Dubbs H; Douglas G; Jobling R; Johnson D; Krock B; Mikati MA; Nesbitt A; Nicolai J; Phillips M; Poduri A; Ortiz-Gonzalez XR; Powis Z; Santani A; Smith L; Stegmann APA; Stumpel C; Vreeburg M; ; Fliedner A; Gregor A; Sticht H; Zweier C
Am J Hum Genet; 2018 Jan; 102(1):44-57. PubMed ID: 29276004
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Oliver KL; Trivisano M; Mandelstam SA; De Dominicis A; Francis DI; Green TE; Muir AM; Chowdhary A; Hertzberg C; Goldhahn K; Metreau J; Prager C; Pinner J; Cardamone M; Myers KA; Leventer RJ; Lesca G; Bahlo M; Hildebrand MS; Mefford HC; Kaindl AM; Specchio N; Scheffer IE
Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245
[TBL] [Abstract][Full Text] [Related]
11. Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.
Spagnoli C; Soliani L; Caraffi SG; Baga M; Rizzi S; Salerno GG; Frattini D; Garavelli L; Koskenvuo J; Pisani F; Fusco C
Parkinsonism Relat Disord; 2020 Jul; 76():54-55. PubMed ID: 32810689
[No Abstract] [Full Text] [Related]
12. Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
Defo A; Verloes A; Elenga N
Mol Genet Genomic Med; 2022 Jun; 10(6):e1929. PubMed ID: 35315256
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
Kim SY; Shim Y; Ko YJ; Park S; Jang SS; Lim BC; Kim KJ; Chae JH
Orphanet J Rare Dis; 2020 Dec; 15(1):343. PubMed ID: 33298085
[TBL] [Abstract][Full Text] [Related]
14. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S
Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452
[TBL] [Abstract][Full Text] [Related]
15. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S; Li J; Wu Y; Jiang Y
J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
[TBL] [Abstract][Full Text] [Related]
16. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
[No Abstract] [Full Text] [Related]
17. [Familial paroxysmal kinesigenic dyskinesia. A case description].
Extreia J; Monteiro I; Ferreira A; Rocha S
An Pediatr (Barc); 2015 Jan; 82(1):e154-7. PubMed ID: 25205178
[TBL] [Abstract][Full Text] [Related]
18. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
[No Abstract] [Full Text] [Related]
19. The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D; Saffari A; Westenberger A; Klein C
Brain; 2015 Dec; 138(Pt 12):3476-95. PubMed ID: 26598493
[TBL] [Abstract][Full Text] [Related]
20. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
Dale RC; Grattan-Smith P; Nicholson M; Peters GB
Dev Med Child Neurol; 2012 Jul; 54(7):618-23. PubMed ID: 22515636
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
