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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. van Bon BW, et al. Among authors: scheffer i. Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24. Mol Psychiatry. 2016. PMID: 25707398 Free PMC article.
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF. Scheffer IE, et al. Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29. Brain. 2008. PMID: 18234694
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Among authors: scheffer ie. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
De novo SCN1A mutations in migrating partial seizures of infancy.
Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE. Carranza Rojo D, et al. Among authors: scheffer ie. Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753172 Free PMC article.
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. Mefford HC, et al. Among authors: scheffer ie. Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645. Ann Neurol. 2011. PMID: 22190369 Free PMC article.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
690 results