Role of SOX2 mutations in human hippocampal malformations and epilepsy

Epilepsia
Sanjay M SisodiyaDavid R Fitzpatrick

Abstract

Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies. We examined high-resolution MRI scans in four patients with SOX2 mutations, two of whom had seizures. We determined the Sox2 expression pattern in developing murine brain. We searched for SOX2 mutation in 24 patients with typical hippocampal sclerosis and for common variations in SOX2 in 655 patients without eye disease but with epilepsy, including 91 patients with febrile seizures, 93 with hippocampal sclerosis, and 258 with temporal lobe epilepsy. Striking hippocampal and parahippocampal malformations were seen in all cases, with a history of febrile seizures or epilepsy in two of four cases. The Sox2 expression pattern in developing mouse brain supports the pattern of malformations observed. Mutation screening in patients with epilepsy did not reveal any abnormalities in SOX2. No associations were found between any clinical epilepsy phenotype and common variation in SOX2. SOX2 haploinsufficiency causes...Continue Reading

References

May 11, 2000·Annals of Neurology·S F Berkovic, G D Jackson
Feb 24, 2001·Neurology·A J Barkovich, R I Kuzniecky
Dec 18, 2001·Neurocase·H J SpiersN Burgess
Jan 10, 2002·Twin Research : the Official Journal of the International Society for Twin Studies·T AndrewA J MacGregor
Nov 14, 2002·Brain : a Journal of Neurology·I E C SommerR S Kahn
Jan 7, 2003·Genes & Development·Ariel A AvilionRobin Lovell-Badge
Mar 4, 2003·Nature Genetics·Judy FantesDavid R FitzPatrick
May 6, 2003·Annals of Neurology·Tejal N MitchellSanjay M Sisodiya
Dec 20, 2003·NeuroImage·Samantha L FreeSanjay M Sisodiya
May 19, 2004·Archives of Neurology·Ganeshwaran H Mochida, Christopher A Walsh
Jun 23, 2004·Lancet Neurology·Stéphanie BaulacMichel Baulac
Oct 29, 2004·Epilepsia·Nigel C K TanSamuel F Berkovic
Nov 19, 2004·American Journal of Human Genetics·Dirk A Kleinjan, Veronica van Heyningen
Apr 7, 2005·American Journal of Medical Genetics. Part a·Nicola K RaggeDavid R Fitzpatrick
May 13, 2005·Brain : a Journal of Neurology·Gianpiero L CavalleriDavid B Goldstein

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Citations

Jul 23, 2011·Pediatric Radiology·Gary L Hedlund
Jun 5, 2008·European Journal of Human Genetics : EJHG·Vinh T DangMark A Ragan
Sep 23, 2010·European Journal of Human Genetics : EJHG·Francesca I ArrigoniSanjay M Sisodiya
Jul 26, 2013·Proceedings of the National Academy of Sciences of the United States of America·Flavio CimadamoreAlexey V Terskikh
Apr 13, 2012·Nucleic Acids Research·J MarianiS K Nicolis
Jul 17, 2008·Epilepsia·Florian A Siebzehnrubl, Ingmar Blumcke
Jan 24, 2007·Journal of Medical Genetics·Sanjay M SisodiyaAnthony T Moore
Aug 26, 2006·The Journal of Clinical Investigation·Daniel KelbermanMehul T Dattani
Nov 28, 2007·Orphanet Journal of Rare Diseases·Amit S Verma, David R Fitzpatrick
Oct 20, 2009·Endocrine Reviews·Daniel KelbermanMehul T Dattani
Feb 21, 2008·The Journal of Clinical Endocrinology and Metabolism·Daniel KelbermanMehul T Dattani
Nov 13, 2012·PloS One·Wenfei Kang, Jean M Hébert
Apr 23, 2010·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·G AgostiniN Girard
Jul 9, 2008·Current Opinion in Neurology·Sanjay Sisodiya
May 23, 2006·Clinical Genetics·A M HeverV van Heyningen
Oct 1, 2011·Clinical Endocrinology·Natascia Di IorgiMohamad Maghnie
Feb 6, 2014·Molecular Genetics & Genomic Medicine·Christina Gerth-KahlertDavid R Fitzpatrick
Aug 8, 2015·American Journal of Medical Genetics. Part a·Oscar Francisco Chacon-CamachoJuan Carlos Zenteno
Nov 19, 2015·International Journal of Molecular Sciences·Tracy SeymourFoteini Kakulas
Apr 1, 2015·Proceedings of the National Academy of Sciences of the United States of America·Alejandro Amador-ArjonaAlexey V Terskikh
Jul 19, 2016·American Journal of Medical Genetics. Part a·Kathleen M GormanMary D King
Jul 30, 2016·Pharmacological Reports : PR·Ewa Ferensztajn-RochowiakJanusz K Rybakowski
Apr 2, 2019·Brain : a Journal of Neurology·Sebastian GuelfiMar Matarin
Jun 24, 2017·Scientific Reports·Aleta R SteevensAmy E Kiernan
Sep 22, 2019·International Journal of Molecular Sciences·Sara MercurioSilvia K Nicolis
Jul 28, 2019·Journal of Cellular Physiology·Ethan P Metz, Angie Rizzino
Mar 20, 2018·The Journal of Clinical Investigation·Patrick J AtkinsonAlan G Cheng
Mar 18, 2006·Human Molecular Genetics·Kathleen A WilliamsonDavid R FitzPatrick
Dec 17, 2020·Development, Growth & Differentiation·Yoshio Wakamatsu, Masanori Uchikawa
Mar 17, 2021·Seizure : the Journal of the British Epilepsy Association·Estela M BruxelIscia Lopes-Cendes
Jan 4, 2008·Development·Maurizio CavallaroSilvia K Nicolis
May 1, 2021·Brain Sciences·Ting-Ying FuMeng-Han Tsai
Aug 22, 2021·Nature Reviews. Endocrinology·Camille HageRoberto Salvatori
Sep 26, 2021·American Journal of Medical Genetics. Part a·Louise Amlie-WolfAdele Schneider

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