212 related articles for article (PubMed ID: 31594069)
1. [WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep].
Zhang YJ; Yao PL; Zhou YF; Qiu T; Wang J; Wang XH; Zhou SZ; Wu BB; Wang Y
Zhonghua Er Ke Za Zhi; 2019 Oct; 57(10):802-804. PubMed ID: 31594069
[TBL] [Abstract][Full Text] [Related]
2. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
Alawadhi A; Morgan AT; Mucha BE; Scheffer IE; Myers KA
Eur J Paediatr Neurol; 2021 Jan; 30():25-28. PubMed ID: 33387902
[TBL] [Abstract][Full Text] [Related]
3. Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
Uehara T; Ishige T; Hattori S; Yoshihashi H; Funato M; Yamaguchi Y; Takenouchi T; Kosaki K
Am J Med Genet A; 2018 Jun; 176(6):1335-1340. PubMed ID: 29663678
[TBL] [Abstract][Full Text] [Related]
4. Copy number variations in patients with electrical status epilepticus in sleep.
Kevelam SH; Jansen FE; Binsbergen Ev; Braun KP; Verbeek NE; Lindhout D; Poot M; Brilstra EH
J Child Neurol; 2012 Feb; 27(2):178-82. PubMed ID: 21954431
[TBL] [Abstract][Full Text] [Related]
5. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
Quental R; Gonçalves D; Rodrigues E; Serrano Gonçalves E; Oliveira J; Parente Freixo J; Leão M
Am J Med Genet A; 2022 Apr; 188(4):1311-1316. PubMed ID: 34997803
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
Toledo-Gotor C; García-Muro C; García-Oguiza A; Poch-Olivé ML; Ruiz-Del Prado MY; Domínguez-Garrido E
Mol Genet Genomic Med; 2022 May; 10(5):e1910. PubMed ID: 35266333
[TBL] [Abstract][Full Text] [Related]
7. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E; Bellini M; Aspromonte MC; Polli R; Mercante A; Ciaccio C; Granocchio E; Bettella E; Donati I; Cainelli E; Boni S; Sartori S; Pantaleoni C; Boniver C; Murgia A
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32214004
[TBL] [Abstract][Full Text] [Related]
8. Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep.
Coutelier M; Andries S; Ghariani S; Dan B; Duyckaerts C; van Rijckevorsel K; Raftopoulos C; Deconinck N; Sonderegger P; Scaravilli F; Vikkula M; Godfraind C
Neurology; 2008 Jul; 71(1):64-6. PubMed ID: 18591508
[No Abstract] [Full Text] [Related]
9. Efficacy of levetiracetam in electrical status epilepticus during sleep of children: a multicenter experience.
Chen XQ; Zhang WN; Yang ZX; Zhao M; Cai FC; Huang SP; Gao L; Pang BD; Chen X; Zou LP
Pediatr Neurol; 2014 Mar; 50(3):243-9. PubMed ID: 24316167
[TBL] [Abstract][Full Text] [Related]
10. [Research advances in electrical status epilepticus in sleep].
Pan G; Zhou SZ
Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):439-42. PubMed ID: 24120062
[No Abstract] [Full Text] [Related]
11. Electrical status epilepticus in sleep: clinical presentation and pathophysiology.
Sánchez Fernández I; Loddenkemper T; Peters JM; Kothare SV
Pediatr Neurol; 2012 Dec; 47(6):390-410. PubMed ID: 23127259
[TBL] [Abstract][Full Text] [Related]
12. Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.
Giovannini S; Frattini D; Scarano A; Fusco C; Bertani G; Della Giustina E; Martinelli P; Orteschi D; Zollino M; Neri G; Gobbi G
Epileptic Disord; 2010 Sep; 12(3):222-7. PubMed ID: 20643614
[TBL] [Abstract][Full Text] [Related]
13. Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D; Torella A; Grandone A; Luongo C; Morleo M; Peduto C; di Fraia R; Selvaggio LD; Allosso F; Accardo G; Zanobio MT; Maitz S; Mariani M; Selicorni A; Banfi S; Nigro V;
Am J Med Genet A; 2023 Mar; 191(3):823-830. PubMed ID: 36420948
[TBL] [Abstract][Full Text] [Related]
14. Syndrome of Electrical Status Epilepticus During Sleep: Epileptic Encephalopathy Related to Brain Development.
Chen XQ; Zhang WN; Hu LY; Liu MJ; Zou LP
Pediatr Neurol; 2016 Mar; 56():35-41. PubMed ID: 26776343
[TBL] [Abstract][Full Text] [Related]
15. A novel variant of DeSanto-Shinawi Syndrome with joint manifestations.
Branco J; Amorim M; Conde M
Eur J Med Genet; 2022 Jul; 65(7):104534. PubMed ID: 35636632
[TBL] [Abstract][Full Text] [Related]
16. Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus.
Guerrini R; Genton P; Bureau M; Parmeggiani A; Salas-Puig X; Santucci M; Bonanni P; Ambrosetto G; Dravet C
Neurology; 1998 Aug; 51(2):504-12. PubMed ID: 9710026
[TBL] [Abstract][Full Text] [Related]
17. Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aphasia.
Tassinari CA; Rubboli G; Volpi L; Meletti S; d'Orsi G; Franca M; Sabetta AR; Riguzzi P; Gardella E; Zaniboni A; Michelucci R
Clin Neurophysiol; 2000 Sep; 111 Suppl 2():S94-S102. PubMed ID: 10996561
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
Zanni G; Barresi S; Cohen R; Specchio N; Basel-Vanagaite L; Valente EM; Shuper A; Vigevano F; Bertini E
Epilepsy Res; 2014 May; 108(4):811-5. PubMed ID: 24630051
[TBL] [Abstract][Full Text] [Related]
19. Sleep and prolonged epileptic activity (status epilepticus).
Fröscher W
Epilepsy Res Suppl; 1991; 2():165-76. PubMed ID: 1760086
[TBL] [Abstract][Full Text] [Related]
20. Encephalopathy with hemi-status epilepticus during sleep or hemi-continuous spikes and waves during slow sleep syndrome: a study of 21 patients.
Fortini S; Corredera L; Pastrana AL; Reyes G; Fasulo L; Caraballo RH
Seizure; 2013 Sep; 22(7):565-71. PubMed ID: 23642405
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]