[PDF] Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1093/brain/awt140 Corpus ID: 15990671Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. @article{Striano2013AutosomalRE, title={Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.}, author={P. Striano and F. Zara and S. Striano and C. Minetti}, journal={Brain : a journal of neurology}, year={2013}, volume={136 Pt 10}, pages={ e253 } } P. Striano, F. Zara, +1 author C. Minetti Published 2013 Biology, Medicine Brain : a journal of neurology ARTICLE Sir, In a recent interesting paper, Stogmann et al. (2013) described a consanguineous Egyptian family with autosomal recessively inherited condition featuring focal epilepsy, neuropsychiatric features, borderline cognitive level, and myoclonus. Exome sequencing in this family revealed a homozygous deletion (c.503_503delG) leading to a frameshift in the coding region of CNTN2 and segregating in the five affected family members. The gene CNTN2 encodes for contactin 2, a… Expand View on PubMed academic.oup.com Save to Library Create Alert Cite Launch Research Feed Share This Paper 5 CitationsHighly Influential Citations 1 Background Citations 2 Results Citations 1 View All Topics from this paper Myoclonus Epilepsy Tremor contactin Epilepsies, Partial CNTN2 gene Unverricht-Lundborg Syndrome Voltage-Gated Potassium Channel Frameshift Mutation function Open Reading Frames Membrane Proteins Homozygote Glycosylphosphatidylinositols 5 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. E. Stogmann, A. Zimprich, F. Zimprich Psychology, Medicine Brain : a journal of neurology 2013 Highly Influenced PDF View 3 excerpts, cites background and results Save Alert Research Feed Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 M. Corbett, Thessa Kroes, +66 authors J. Gécz Biology, Medicine Nature Communications 2019 29 PDF Save Alert Research Feed Unravelling the enigma of cortical tremor and other forms of cortical myoclonus. A. Latorre, L. Rocchi, +4 authors K. Bhatia Biology, Medicine Brain : a journal of neurology 2020 4 PDF View 1 excerpt, cites background Save Alert Research Feed Cell Adhesion Molecules Xia-Jing Tong, Yan Zou Biology 2019 Save Alert Research Feed Advances in Membrane Proteins: Building, Signaling and Malfunction Yu Cao, Xian-cheng Jiang, Y. Chen, Y. Xia 2019 Save Alert Research Feed References SHOWING 1-10 OF 15 REFERENCES SORT BYRelevance Most Influenced Papers Recency Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype P. Striano, F. Zara, S. Striano Biology, Medicine Acta neurologica Scandinavica 2005 49 View 4 excerpts, references results and background Save Alert Research Feed Familial cortical myoclonic tremor with epilepsy: A single syndromic classification for a group of pedigrees bearing common features A. van Rootselaar, I. N. van Schaik, A. V. D. van den Maagdenberg, J. Koelman, P. Callenbach, M. Tijssen Psychology, Biology Movement disorders : official journal of the Movement Disorder Society 2005 78 Save Alert Research Feed Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. D. Crompton, L. Sadleir, +8 authors I. 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Striano Medicine Epilepsia 2007 29 View 1 excerpt, references background Save Alert Research Feed Exacerbation of Partial Seizures and Onset of Nonepileptic Myoclonus with Carbamazepine A. Dhuna, A. Pascual-Leone, D. Talwar Psychology, Medicine Epilepsia 1991 36 View 2 excerpts, references background Save Alert Research Feed When antiepileptic drugs aggravate epilepsy P. Genton Medicine Brain and Development 2000 176 View 2 excerpts, references background Save Alert Research Feed Cortical tremor A. Ikeda, R. Kakigi, N. Funai, R. Neshige, Y. Kuroda, H. Shibasaki Psychology, Medicine Neurology 1990 128 View 1 excerpt, references background Save Alert Research Feed Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2 E. Stogmann Biology 2013 9 Highly Influential View 6 excerpts, references background and results Save Alert Research Feed ... 1 2 ... 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