412 related articles for article (PubMed ID: 31395010)
1. Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Jimenez-Gomez A; Niu S; Andujar-Perez F; McQuade EA; Balasa A; Huss D; Coorg R; Quach M; Vinson S; Risen S; Holder JL
J Neurodev Disord; 2019 Aug; 11(1):18. PubMed ID: 31395010
[TBL] [Abstract][Full Text] [Related]
2. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K; Brimble E; Poduri A
Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
[TBL] [Abstract][Full Text] [Related]
3. SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.
Agarwal M; Johnston MV; Stafstrom CE
Int J Dev Neurosci; 2019 Nov; 78():65-76. PubMed ID: 31454529
[TBL] [Abstract][Full Text] [Related]
4. [Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].
Liu H; Yang S; Li J; Xie H; Chen X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):25-31. PubMed ID: 38171555
[TBL] [Abstract][Full Text] [Related]
5. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
Verma V; Mandora A; Botre A; Clement JP
Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
[TBL] [Abstract][Full Text] [Related]
6. Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
Meili F; Wei WJ; Sin WC; Meyers WM; Dascalu I; Callaghan DB; Rogic S; Pavlidis P; Haas K
Am J Hum Genet; 2021 Jan; 108(1):148-162. PubMed ID: 33308442
[TBL] [Abstract][Full Text] [Related]
7. Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
Kilinc M; Creson T; Rojas C; Aceti M; Ellegood J; Vaissiere T; Lerch JP; Rumbaugh G
Mol Cell Neurosci; 2018 Sep; 91():140-150. PubMed ID: 29580901
[TBL] [Abstract][Full Text] [Related]
8.
Vlaskamp DRM; Shaw BJ; Burgess R; Mei D; Montomoli M; Xie H; Myers CT; Bennett MF; XiangWei W; Williams D; Maas SM; Brooks AS; Mancini GMS; van de Laar IMBH; van Hagen JM; Ware TL; Webster RI; Malone S; Berkovic SF; Kalnins RM; Sicca F; Korenke GC; van Ravenswaaij-Arts CMA; Hildebrand MS; Mefford HC; Jiang Y; Guerrini R; Scheffer IE
Neurology; 2019 Jan; 92(2):e96-e107. PubMed ID: 30541864
[TBL] [Abstract][Full Text] [Related]
9. Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.
Aceti M; Creson TK; Vaissiere T; Rojas C; Huang WC; Wang YX; Petralia RS; Page DT; Miller CA; Rumbaugh G
Biol Psychiatry; 2015 May; 77(9):805-15. PubMed ID: 25444158
[TBL] [Abstract][Full Text] [Related]
10. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH; Hamdan FF; Klitten LL; Møller RS; Carmant L; Schwartzentruber J; Patry L; Dobrzeniecka S; Rochefort D; Neugnot-Cerioli M; Lacaille JC; Niu Z; Eng CM; Yang Y; Palardy S; Belhumeur C; Rouleau GA; Tommerup N; Immken L; Beauchamp MH; Patel GS; Majewski J; Tarnopolsky MA; Scheffzek K; Hjalgrim H; Michaud JL; Di Cristo G
Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
[TBL] [Abstract][Full Text] [Related]
11. Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
von Stülpnagel C; Hartlieb T; Borggräfe I; Coppola A; Gennaro E; Eschermann K; Kiwull L; Kluger F; Krois I; Møller RS; Rössler F; Santulli L; Schwermer C; Wallacher-Scholz B; Zara F; Wolf P; Kluger G
Seizure; 2019 Feb; 65():131-137. PubMed ID: 30685520
[TBL] [Abstract][Full Text] [Related]
12.
Llamosas N; Arora V; Vij R; Kilinc M; Bijoch L; Rojas C; Reich A; Sridharan B; Willems E; Piper DR; Scampavia L; Spicer TP; Miller CA; Holder JL; Rumbaugh G
J Neurosci; 2020 Oct; 40(41):7980-7994. PubMed ID: 32887745
[No Abstract] [Full Text] [Related]
13. SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
von Stülpnagel C; Funke C; Haberl C; Hörtnagel K; Jüngling J; Weber YG; Staudt M; Kluger G
Neuropediatrics; 2015 Aug; 46(4):287-91. PubMed ID: 26110312
[TBL] [Abstract][Full Text] [Related]
14. Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description.
Wright D; Kenny A; Eley S; McKechanie AG; Stanfield AC
J Neurodev Disord; 2022 Jun; 14(1):34. PubMed ID: 35655128
[TBL] [Abstract][Full Text] [Related]
15. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
[TBL] [Abstract][Full Text] [Related]
16. [Clinical characteristics and gene analysis of SYNGAP1-related epilepsy in children].
Tian XJ; Fang F; Ding CH; Ren XT; Wang X; Wang XF; Lyu JL; Jin H; Han TL; Deng J
Zhonghua Er Ke Za Zhi; 2021 Dec; 59(12):1059-1064. PubMed ID: 34856666
[No Abstract] [Full Text] [Related]
17. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
Holder JL; Quach MM
Epilepsia; 2016 Oct; 57(10):1651-1659. PubMed ID: 27554343
[TBL] [Abstract][Full Text] [Related]
18. SYNGAP1-DEE: A visual sensitive epilepsy.
Lo Barco T; Kaminska A; Solazzi R; Cancés C; Barcia G; Chemaly N; Fontana E; Desguerre I; Canafoglia L; Hachon Le Camus C; Losito E; Villard L; Eisermann M; Dalla Bernardina B; Villeneuve N; Nabbout R
Clin Neurophysiol; 2021 Apr; 132(4):841-850. PubMed ID: 33639450
[TBL] [Abstract][Full Text] [Related]
19. SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
Kim HJ; Kim M; Jang S; Cho JS; Kim SY; Cho A; Kim H; Lim BC; Chae JH; Choi J; Kim KJ; Kim W
Am J Med Genet A; 2024 Apr; ():e63606. PubMed ID: 38563110
[TBL] [Abstract][Full Text] [Related]
20. The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
Weldon M; Kilinc M; Lloyd Holder J; Rumbaugh G
J Neurodev Disord; 2018 Feb; 10(1):6. PubMed ID: 29402231
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]