171 related articles for article (PubMed ID: 32214004)
1. 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]
2. Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Bonardi CM; Mignot C; Serratosa JM; Giraldez BG; Moretti R; Rudolf G; Reale C; Gellert PM; Johannesen KM; Lesca G; Tassinari CA; Gardella E; Møller RS; Rubboli G
Clin Neurophysiol; 2020 May; 131(5):1030-1039. PubMed ID: 32197126
[TBL] [Abstract][Full Text] [Related]
3. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D; Reijnders MR; Fenckova M; Bijlsma EK; Bernier R; van Bon BW; Smeets E; Vulto-van Silfhout AT; Bosch D; Eichler EE; Mefford HC; Carvill GL; Bongers EM; Schuurs-Hoeijmakers JH; Ruivenkamp CA; Santen GW; van den Maagdenberg AM; Peeters-Scholte CM; Kuenen S; Verstreken P; Pfundt R; Yntema HG; de Vries PF; Veltman JA; Hoischen A; Gilissen C; de Vries BB; Schenck A; Kleefstra T; Vissers LE
Eur J Hum Genet; 2016 Aug; 24(8):1145-53. PubMed ID: 26757981
[TBL] [Abstract][Full Text] [Related]
4. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Morales JA; Valenzuela I; Cuscó I; Cogné B; Isidor B; Matalon DR; Gomez-Ospina N
Am J Med Genet A; 2022 May; 188(5):1396-1406. PubMed ID: 35018708
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Abdelhedi F; El Khattabi L; Essid N; Viot G; Letessier D; Lebbar A; Dupont JM
Am J Med Genet A; 2016 Jul; 170(7):1912-7. PubMed ID: 27119754
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.
Pavlidis E; Møller RS; Nikanorova M; Kölmel MS; Stendevad P; Beniczky S; Tassinari CA; Rubboli G; Gardella E
Epilepsy Behav; 2019 Aug; 97():244-252. PubMed ID: 31254844
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML; de Bellescize J; Till M; Flurin V; Labalme A; Chatron N; Sanlaville D; Chemaly N; des Portes V; Ostrowsky K; Arzimanoglou A; Lesca G
Eur J Paediatr Neurol; 2018 Nov; 22(6):1124-1132. PubMed ID: 30126759
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Cognitive impairment and behavioral disorders in Encephalopathy related to Status Epilepticus during slow Sleep: diagnostic assessment and outcome.
Arzimanoglou A; Cross HJ
Epileptic Disord; 2019 Jun; 21(S1):71-75. PubMed ID: 31172955
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH.
Russo A; Gobbi G; Pini A; Møller RS; Rubboli G
Epileptic Disord; 2020 Dec; 22(6):802-806. PubMed ID: 33355533
[TBL] [Abstract][Full Text] [Related]
18. Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).
Wang S; Weil AG; Ibrahim GM; Fallah A; Korman B; Ragheb J; Bhatia S; Duchowny M
Epileptic Disord; 2020 Feb; 22(1):39-54. PubMed ID: 32043470
[TBL] [Abstract][Full Text] [Related]
19. Progressive intellectual impairment in children with Encephalopathy related to Status Epilepticus during slow Sleep.
Dorris L; O'Regan M; Wilson M; Zuberi SM
Epileptic Disord; 2019 Jun; 21(S1):88-96. PubMed ID: 31180329
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]