doi: 10.1212/01.wnl.0000073272.47681.bb.
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
Affiliations
- PMID: 12913212
- DOI: 10.1212/01.wnl.0000073272.47681.bb
Item in Clipboard
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
Neurology.
.
Abstract
The authors studied nine members of a family that demonstrated a limited form of tuberous sclerosis complex (TSC). Cutaneous findings were limited to hypopigmented macules in four patients. Five family members had recurrent seizures, and three of these had migrational defects of the cerebral mantle. Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. The findings suggest that this mild variant form of TSC is due to a novel TSC2 mutation.
Similar articles
-
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
-
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.Am J Med Genet A. 2017 Mar;173(3):744-748. doi: 10.1002/ajmg.a.38027. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127866
-
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.J Med Genet. 2004 May;41(5):e64. doi: 10.1136/jmg.2003.010835. J Med Genet. 2004. PMID: 15121792 Free PMC article. No abstract available.
-
The genetic basis of tuberous sclerosis.Mol Med Today. 1998 Jul;4(7):313-9. doi: 10.1016/s1357-4310(98)01245-3. Mol Med Today. 1998. PMID: 9743993 Review.
-
Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.Br J Dermatol. 2006 Nov;155(5):1070-3. doi: 10.1111/j.1365-2133.2006.07469.x. Br J Dermatol. 2006. PMID: 17034546 Review. No abstract available.
Cited by
-
A reliable cell-based assay for testing unclassified TSC2 gene variants.Eur J Hum Genet. 2009 Mar;17(3):301-10. doi: 10.1038/ejhg.2008.184. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854862 Free PMC article.
-
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.Ann Hum Genet. 2009 Mar;73(2):141-6. doi: 10.1111/j.1469-1809.2008.00496.x. Epub 2008 Dec 23. Ann Hum Genet. 2009. PMID: 19133941 Free PMC article.
-
Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges.Childs Nerv Syst. 2010 Nov;26(11):1495-504. doi: 10.1007/s00381-010-1128-8. Epub 2010 Apr 1. Childs Nerv Syst. 2010. PMID: 20358377 Review.
-
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Hum Mol Genet. 2012 Oct 1;21(19):4286-300. doi: 10.1093/hmg/dds262. Epub 2012 Jun 29. Hum Mol Genet. 2012. PMID: 22752306 Free PMC article.
-
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782670 Free PMC article. Clinical Trial.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
