164 related articles for article (PubMed ID: 37518898)
1. MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
Boeri S; Scala M; Madia F; Perucco F; Vozzi D; Capra V; Zara F; Nobili L; Mancardi MM
Epileptic Disord; 2023 Dec; 25(6):874-879. PubMed ID: 37518898
[TBL] [Abstract][Full Text] [Related]
2. Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous
Yip S; Calli K; Qiao Y; Trost B; Scherer SW; Lewis MES
Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136944
[TBL] [Abstract][Full Text] [Related]
3. A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
Carvalho LML; D'Angelo CS; Mustacchi Z; da Silva IT; Krepischi ACV; Koiffmann CP; Rosenberg C
Obes Res Clin Pract; 2021; 15(2):124-132. PubMed ID: 33622623
[TBL] [Abstract][Full Text] [Related]
4. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J; Guerrot AM; Morrow MM; Schramm C; Zamora FM; Shanmugham A; Liu S; Zou F; Bilan F; Le Guyader G; Bruel AL; Denommé-Pichon AS; Faivre L; Tran Mau-Them F; Tessarech M; Colin E; El Chehadeh S; Gérard B; Schaefer E; Cogne B; Isidor B; Nizon M; Doummar D; Valence S; Héron D; Keren B; Mignot C; Coutton C; Devillard F; Alaix AS; Amiel J; Colleaux L; Munnich A; Poirier K; Rio M; Rondeau S; Barcia G; Callewaert B; Dheedene A; Kumps C; Vergult S; Menten B; Chung WK; Hernan R; Larson A; Nori K; Stewart S; Wheless J; Kresge C; Pletcher BA; Caumes R; Smol T; Sigaudy S; Coubes C; Helm M; Smith R; Morrison J; Wheeler PG; Kritzer A; Jouret G; Afenjar A; Deleuze JF; Olaso R; Boland A; Poitou C; Frebourg T; Houdayer C; Saugier-Veber P; Nicolas G; Lecoquierre F
Hum Genet; 2022 Jan; 141(1):65-80. PubMed ID: 34748075
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Bouassida M; Egloff M; Levy J; Chatron N; Bernardini L; Le Guyader G; Tabet AC; Schluth-Bolard C; Brancati F; Giuffrida MG; Dard R; Clorennec J; Coursimault J; Vialard F; Hervé B
Eur J Hum Genet; 2023 Aug; 31(8):895-904. PubMed ID: 37188826
[TBL] [Abstract][Full Text] [Related]
7. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X; Han Y; Yang L; Xu N; Zhu L; Qiu S; Li Y; Xu L; Yu X
Seizure; 2024 Jan; 114():111-120. PubMed ID: 38134649
[TBL] [Abstract][Full Text] [Related]
8. MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.
Mansfield P; Constantino JN; Baldridge D
Am J Med Genet B Neuropsychiatr Genet; 2020 Jun; 183(4):227-233. PubMed ID: 32267091
[TBL] [Abstract][Full Text] [Related]
9. MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Blanchet P; Bebin M; Bruet S; Cooper GM; Thompson ML; Duban-Bedu B; Gerard B; Piton A; Suckno S; Deshpande C; Clowes V; Vogt J; Turnpenny P; Williamson MP; Alembik Y; ; ; Glasgow E; McNeill A
PLoS Genet; 2017 Aug; 13(8):e1006957. PubMed ID: 28859103
[TBL] [Abstract][Full Text] [Related]
10. Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.
Tanaka R; Takahashi S; Kuroda M; Takeguchi R; Suzuki N; Makita Y; Narumi-Kishimoto Y; Kaname T
Epileptic Disord; 2020 Aug; 22(4):501-505. PubMed ID: 32723703
[TBL] [Abstract][Full Text] [Related]
11. Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC; Becker J; Cremer K; Hundertmark H; Yates LM; Mangold E; Peters S; Degenhardt F; Ludwig KU; Zink AM; Lessel D; Bierhals T; Herget T; Johannsen J; Denecke J; Wohlleber E; Strom TM; Wieczorek D; Bertoli M; Colombo R; Hempel M; Engels H
Am J Med Genet A; 2020 May; 182(5):1021-1031. PubMed ID: 32065501
[TBL] [Abstract][Full Text] [Related]
12. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
De Rocker N; Vergult S; Koolen D; Jacobs E; Hoischen A; Zeesman S; Bang B; Béna F; Bockaert N; Bongers EM; de Ravel T; Devriendt K; Giglio S; Faivre L; Joss S; Maas S; Marle N; Novara F; Nowaczyk MJ; Peeters H; Polstra A; Roelens F; Rosenberg C; Thevenon J; Tümer Z; Vanhauwaert S; Varvagiannis K; Willaert A; Willemsen M; Willems M; Zuffardi O; Coucke P; Speleman F; Eichler EE; Kleefstra T; Menten B
Genet Med; 2015 Jun; 17(6):460-6. PubMed ID: 25232846
[TBL] [Abstract][Full Text] [Related]
13. A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.
Loid P; Mäkitie R; Costantini A; Viljakainen H; Pekkinen M; Mäkitie O
Am J Med Genet A; 2018 Sep; 176(9):1972-1975. PubMed ID: 30055078
[TBL] [Abstract][Full Text] [Related]
14. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M; Ferretti A; Bebin E; Huh L; Lesca G; Siekierska A; Takeguchi R; Carneiro M; De Palma L; Guella I; Haginoya K; Shi RM; Kikuchi A; Kobayashi T; Jung J; Lagae L; Milh M; Mathieu ML; Minassian BA; Novelli A; Pietrafusa N; Takeshita E; Tartaglia M; Terracciano A; Thompson ML; Cooper GM; Vigevano F; Villard L; Villeneuve N; Buyse GM; Demos M; Scheffer IE; Specchio N
Epilepsia; 2020 Jul; 61(7):e71-e78. PubMed ID: 32645220
[TBL] [Abstract][Full Text] [Related]
15. Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.
Wöhr M; Fong WM; Janas JA; Mall M; Thome C; Vangipuram M; Meng L; Südhof TC; Wernig M
Mol Autism; 2022 May; 13(1):19. PubMed ID: 35538503
[TBL] [Abstract][Full Text] [Related]
16. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
[TBL] [Abstract][Full Text] [Related]
17. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
18. MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
Weigel B; Tegethoff JF; Grieder SD; Lim B; Nagarajan B; Liu YC; Truberg J; Papageorgiou D; Adrian-Segarra JM; Schmidt LK; Kaspar J; Poisel E; Heinzelmann E; Saraswat M; Christ M; Arnold C; Ibarra IL; Campos J; Krijgsveld J; Monyer H; Zaugg JB; Acuna C; Mall M
Mol Psychiatry; 2023 May; 28(5):2122-2135. PubMed ID: 36782060
[TBL] [Abstract][Full Text] [Related]
19. Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
Yang S; Yang LM; Liao HM; Fang HJ; Ning ZS; Liao CS; Wu LW
Neurol Sci; 2022 Aug; 43(8):5039-5048. PubMed ID: 35352205
[TBL] [Abstract][Full Text] [Related]
20. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]