196 related articles for article (PubMed ID: 22050443)
1. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Klitten LL; Møller RS; Nikanorova M; Silahtaroglu A; Hjalgrim H; Tommerup N
Epilepsia; 2011 Dec; 52(12):e190-3. PubMed ID: 22050443
[TBL] [Abstract][Full Text] [Related]
2. 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
Writzl K; Knegt AC
Am J Med Genet A; 2013 Jul; 161A(7):1682-5. PubMed ID: 23687080
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF; Daoud H; Piton A; Gauthier J; Dobrzeniecka S; Krebs MO; Joober R; Lacaille JC; Nadeau A; Milunsky JM; Wang Z; Carmant L; Mottron L; Beauchamp MH; Rouleau GA; Michaud JL
Biol Psychiatry; 2011 May; 69(9):898-901. PubMed ID: 21237447
[TBL] [Abstract][Full Text] [Related]
5. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ; Fryer AE; Shears DJ; Lachlan KL; McKee SA; Magee AC; Mohammed S; Vasudevan PC; Park SM; Benoit V; Lederer D; Maystadt I; Study D; FitzPatrick DR
Am J Med Genet A; 2015 Oct; 167A(10):2231-7. PubMed ID: 26079862
[TBL] [Abstract][Full Text] [Related]
6. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Møller RS; Schneider LM; Hansen CP; Bugge M; Ullmann R; Tommerup N; Tümer Z
Epilepsia; 2008 Jun; 49(6):1091-4. PubMed ID: 18294202
[TBL] [Abstract][Full Text] [Related]
7. Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy.
Valetto A; Bertini V; Bonuccelli A; Veroni F; Simi P; Taddeucci G
Epilepsy Res; 2009 Sep; 86(1):89-93. PubMed ID: 19539447
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation.
Morea A; Boero G; Demaio V; Francavilla T; La Neve A
Neurol Sci; 2021 May; 42(5):2059-2062. PubMed ID: 33387058
[TBL] [Abstract][Full Text] [Related]
12. Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
Kimura Y; Akahira-Azuma M; Harada N; Enomoto Y; Tsurusaki Y; Kurosawa K
Congenit Anom (Kyoto); 2018 Nov; 58(6):188-190. PubMed ID: 29381230
[TBL] [Abstract][Full Text] [Related]
13. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.
Fujiwara T
Epilepsy Res; 2006 Aug; 70 Suppl 1():S223-30. PubMed ID: 16806826
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Chilian B; Abdollahpour H; Bierhals T; Haltrich I; Fekete G; Nagel I; Rosenberger G; Kutsche K
Clin Genet; 2013 Dec; 84(6):560-5. PubMed ID: 23350639
[TBL] [Abstract][Full Text] [Related]
16. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.
Backx L; Seuntjens E; Devriendt K; Vermeesch J; Van Esch H
Cytogenet Genome Res; 2011; 132(3):135-43. PubMed ID: 21042007
[TBL] [Abstract][Full Text] [Related]
17. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.
Krepischi AC; Rosenberg C; Costa SS; Crolla JA; Huang S; Vianna-Morgante AM
Am J Med Genet A; 2010 Sep; 152A(9):2376-8. PubMed ID: 20683986
[No Abstract] [Full Text] [Related]
18. [Identification of the breakpoint-flanking markers on chromosomes 1 and 17 of a constitutional translocation T(1;17)(P36;Q12-21) in a patient with neuroblastoma].
Laureys GG
Verh K Acad Geneeskd Belg; 1995; 57(5):389-422. PubMed ID: 8571670
[TBL] [Abstract][Full Text] [Related]
19. Autosomal insertional translocation mimicking an X-linked mode of inheritance.
Thierry G; Pichon O; Briand A; Poulain D; Sznajer Y; David A; Le Caignec C
Eur J Med Genet; 2013 Jan; 56(1):46-9. PubMed ID: 23107885
[TBL] [Abstract][Full Text] [Related]
20. A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
Specchio N; Trivisano M; Balestri M; Gennaro E; Specchio LM; Fusco L; Zara F; Vigevano F
Acta Neurol Belg; 2010 Sep; 110(3):281-3. PubMed ID: 21114141
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]