NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

Human Genetics

Volumn 131, Issue 7, 2012, Pages 1217-1224

  Jiang, Yuwu ^a   Zhang, Yuehua ^a   Zhang, Pingping ^a   Sang, Tian ^a   Zhang, Feng ^b   Ji, Taoyun ^a   Huang, Qionghui ^a   Xie, Han ^a   Du, Renqian ^b   Cai, Bin ^c   Zhao, Haijuan ^a   Wang, Jingmin ^a   Wu, Ye ^a   Wu, Husheng ^d   Xu, Keming ^e   Liu, Xiaoyan ^a   Chan, Piu ^f   Wu, Xiru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b FUDAN UNIVERSITY   (China)

^c NATIONAL ENGINEERING RESEARCH CENTER FOR BEIJING BIOCHIP TECHNOLOGY   (China)

^d CAPITAL MEDICAL UNIVERSITY   (China)

^e CAPITAL INSTITUTE OF PEDIATRICS   (China)

^f CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; NIPA2 MAGNESIUM TRANSPORTER; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOME; CHILDHOOD ABSENCE EPILEPSY; CHINESE; CHROMOSOME 15Q11.2; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HAPLOINSUFFICIENCY; HUMAN; INDEL MUTATION; INTRON; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; DNA COPY NUMBER VARIATIONS; EPILEPSY, ABSENCE; FEMALE; GENOTYPE; HAPLOINSUFFICIENCY; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84862759383     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1149-3     Document Type: Article

References (30)

1. S Ben-Shachar B Lanpher JR German M Qasaymeh L Potocki SC Nagamani LM Franco A Malphrus GW Bottenfield JE Spence S Amato JA Rousseau B Moghaddam C Skinner SA Skinner S Bernes N Armstrong M Shinawi P Stankiewicz A Patel SW Cheung JR Lupski AL Beaudet T Sahoo 2009 Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders J Med Genet 46 382 388 19289393 10.1136/jmg.2008.064378 1:CAS:528: DC%2BD1MXps1WitLs%3D
2. H Cao Y Jiang Z Liu X Wu 2003 The effect of magnesium-free treatment induced recurrent epileptiform discharges on developing cortical neuron in vitro Dev Brain Res 142 1 6 10.1016/S0165-3806(03)00005-1 1:CAS:528: DC%2BD3sXivFCrsbk%3D
3. L Castilla-Guerra M del Carmen Fernández-Moreno JM López-Chozas R Fernández-Bolaños 2006 Electrolytes disturbances and seizures Epilepsia 47 1990 1998 17201695 10.1111/j.1528-1167. 2006.00861.x 1:CAS:528:DC%2BD2sXhsVSlsbk%3D
4. JH Chai DP Locke JM Greally JH Knoll T Ohta J Dunai A Yavor EE Eichler RD Nicholls 2003 Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons Am J Hum Genet 73 898 925 14508708 10.1086/378816 1:CAS:528:DC%2BD3sXotF2hs74%3D
5. Y Chen J Lu H Pan Y Zhang H Wu K Xu X Liu Y Jiang X Bao Z Yao K Ding WH Lo B Qiang P Chan Y Shen X Wu 2003 Association between genetic variation of CACNA1H and childhood absence epilepsy Ann Neurol 54 239 243 12891677 10.1002/ana.10607 1:CAS:528:DC%2BD3sXmslCqsrs%3D
6. G Czéh GG Somjen 1989 Changes in extracellular calcium and magnesium and synaptic transmission in isolated mouse spinal cord Brain Res 486 274 285 2543479 10.1016/0006-8993(89)90513-1
7. G D'Arcangelo M D'Antuono G Biagini R Warren V Tancredi M Avoli 2002 Thalamocortical oscillations in a genetic model of absence seizures Eur J Neurosci 16 2383 2393 12492433 10.1046/j.1460-9568.2002.02411.x
8. CG de Kovel H Trucks I Helbig HC Mefford C Baker C Leu C Kluck H Muhle S von Spiczak P Ostertag T Obermeier AA Kleefuss-Lie K Hallmann M Steffens V Gaus KM Klein HM Hamer F Rosenow EH Brilstra DK Trenité ME Swinkels YG Weber I Unterberger F Zimprich L Urak M Feucht K Fuchs RS Møller H Hjalgrim P De Jonghe A Suls IM Rückert HE Wichmann A Franke S Schreiber P Nürnberg CE Elger H Lerche U Stephani BP Koeleman D Lindhout EE Eichler T Sander 2010 Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies Brain 133 Pt 1 23 32 19843651 10.1093/brain/awp262
9. LM Dibbens S Mullen I Helbig HC Mefford MA Bayly S Bellows C Leu H Trucks T Obermeier M Wittig A Franke H Caglayan Z Yapici EPICURE Consortium T Sander EE Eichler IE Scheffer JC Mulley SF Berkovic 2009 Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance Hum Mol Genet 18 3626 3631 19592580 10.1093/hmg/ddp311 1:CAS:528:DC%2BD1MXhtFagsbjL
10. 2+ transporter Am J Physiol Cell Physiol 295 4 C944 C953 18667602 10.1152/ajpcell.00091.2008 1:CAS:528:DC%2BD1cXht1ymtLfI
11. FD Hannes AJ Sharp HC Mefford T de Ravel CA Ruivenkamp MH Breuning JP Fryns K Devriendt G Van Buggenhout A Vogels H Stewart RC Hennekam GM Cooper R Regan SJ Knight EE Eichler JR Vermeesch 2009 Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant J Med Genet 46 223 232 18550696 10.1136/jmg.2007.055202 1:CAS:528:DC%2BD1MXlt1Git7s%3D
12. I Helbig HC Mefford AJ Sharp M Guipponi M Fichera A Franke H Muhle C de Kovel C Baker S von Spiczak KL Kron I Steinich AA Kleefuss-Lie C Leu V Gaus B Schmitz KM Klein PS Reif F Rosenow Y Weber H Lerche F Zimprich L Urak K Fuchs M Feucht P Genton P Thomas F Visscher GJ de Haan RS Møller H Hjalgrim D Luciano M Wittig M Nothnagel CE Elger P Nürnberg C Romano A Malafosse BP Koeleman D Lindhout U Stephani S Schreiber EE Eichler T Sander 2009 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Nat Genet 41 160 162 19136953 10.1038/ng.292 1:CAS:528:DC%2BD1MXktVehsg%3D%3D
13. JR Hughes 2009 Absence seizures: a review of recent reports with new concepts Epilepsy Behav 15 404 412 19632158 10.1016/j.yebeh.2009.06.007
14. International Schizophrenia Consortium 2008 Rare chromosomal deletions and duplications increase risk of schizophrenia Nature 455 237 241 10.1038/nature07239
15. A Itsara GM Cooper C Baker S Girirajan J Li D Absher RM Krauss RM Myers PM Ridker DI Chasman H Mefford P Ying DA Nickerson EE Eichler 2009 Population analysis of large copy number variants and hotspots of human genetic disease Am J Hum Genet 84 148 161 19166990 10.1016/j.ajhg.2008.12.014 1:CAS:528: DC%2BD1MXisFCrt7g%3D
16. P Jallon P Latour 2005 Epidemiology of idiopathic generalized epilepsies Epilepsia 46 Suppl 9 10 14 16302871 10.1111/j.1528-1167.2005.00309.x
17. YH Jiang K Wauki Q Liu J Bressler Y Pan CD Kashork LG Shaffer AL Beaudet 2008 Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region BMC Genomics 9 50 18226259 10.1186/1471-2164-9-50
18. L Lacinova 2004 Pharmacology of recombinant low-voltage activated calcium channels Curr Drug Targets CNS Neurol Disord 3 105 111 15078185 10.2174/1568007043482543 1:CAS:528:DC%2BD2cXisFWksr4%3D
19. HC Mefford AJ Sharp C Baker A Itsara Z Jiang K Buysse S Huang VK Maloney JA Crolla D Baralle A Collins C Mercer K Norga T de Ravel K Devriendt EM Bongers N de Leeuw W Reardon S Gimelli F Bena RC Hennekam A Male L Gaunt J Clayton-Smith I Simonic SM Park SG Mehta S Nik-Zainal CG Woods HV Firth G Parkin M Fichera S Reitano M Lo Giudice KE Li I Casuga A Broomer B Conrad M Schwerzmann L Räber S Gallati P Striano A Coppola JL Tolmie ES Tobias C Lilley L Armengol Y Spysschaert P Verloo A De Coene L Goossens G Mortier F Speleman E van Binsbergen MR Nelen R Hochstenbach M Poot L Gallagher M Gill J McClellan MC King R Regan C Skinner RE Stevenson SE Antonarakis C Chen X Estivill B Menten G Gimelli S Gribble S Schwartz JS Sutcliffe T Walsh SJ Knight J Sebat C Romano CE Schwartz JA Veltman BB de Vries JR Vermeesch JC Barber L Willatt M Tassabehji EE Eichler 2008 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes N Engl J Med 359 1685 1699 18784092 10.1056/NEJMoa0805384 1:CAS:528:DC%2BD1cXht1Kkt73K
20. HC Mefford H Muhle P Ostertag S von Spiczak K Buysse C Baker A Franke A Malafosse P Genton P Thomas CA Gurnett S Schreiber AG Bassuk M Guipponi U Stephani I Helbig EE Eichler 2010 Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies PLoS Genet 6 5 e1000962 20502679 10.1371/journal.pgen.1000962
21. T Pastinen 2010 Genome-wide allele-specific analysis: insights into regulatory variation Nat Rev Genet 11 533 538 20567245 10.1038/nrg2815 1:CAS:528:DC%2BC3cXovFOhtr8%3D
22. G Rausche P Igelmund U Heinemann 1990 Effects of changes in extracellular potassium, magnesium and calcium concentration on synaptic transmission in area CA1 and the dentate gyrus of rat hippocampal slices Pflugers Arch 415 588 593 2158068 10.1007/BF02583510 1:CAS:528:DyaK3cXhsFGqurc%3D
23. JE Riggs 2002 Neurological manifestations of electrolyte disturbances Neurol Clin 20 227 239 11754308 10.1016/S0733-8619(03)00060-4
24. J Sebat B Lakshmi D Malhotra J Troge C Lese-Martin T Walsh B Yamrom S Yoon A Krasnitz J Kendall A Leotta D Pai R Zhang YH Lee J Hicks SJ Spence AT Lee K Puura T Lehtimäki D Ledbetter PK Gregersen J Bregman JS Sutcliffe V Jobanputra W Chung D Warburton MC King D Skuse DH Geschwind TC Gilliam K Ye M Wigler 2007 Strong association of de novo copy number mutations with autism Science 316 445 449 17363630 10.1126/science.1138659 1:CAS:528: DC%2BD2sXktlSkuro%3D
25. AJ Sharp HC Mefford K Li C Baker C Skinner RE Stevenson RJ Schroer F Novara M De Gregori R Ciccone A Broomer I Casuga Y Wang C Xiao C Barbacioru G Gimelli BD Bernardina C Torniero R Giorda R Regan V Murday S Mansour M Fichera L Castiglia P Failla M Ventura Z Jiang GM Cooper SJ Knight C Romano O Zuffardi C Chen CE Schwartz EE Eichler 2008 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures Nat Genet 40 322 328 18278044 10.1038/ng.93 1:CAS:528:DC%2BD1cXisVKht7w%3D
26. P Stankiewicz JR Lupski 2002 Genome architecture, rearrangements and genomic disorders Trends Genet 18 2 74 82 11818139 10.1016/S0168-9525(02)02592-1 1:CAS:528:DC%2BD38XovFantA%3D%3D
27. HT Tsang TL Edwards X Wang JW Connell RJ Davies HJ Durrington CJ O'Kane JP Luzio E Reid 2009 The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signaling Hum Mol Genet 18 3805 3821 19620182 10.1093/hmg/ddp324 1:CAS:528:DC%2BD1MXhtFyhurfL
28. BW van Bon HC Mefford B Menten DA Koolen AJ Sharp WM Nillesen JW Innis TJ de Ravel CL Mercer M Fichera H Stewart LE Connell K Ounap K Lachlan B Castle N van der Aa C van Ravenswaaij MA Nobrega C Serra-Juhé I Simonic N de Leeuw R Pfundt EM Bongers C Baker P Finnemore S Huang VK Maloney JA Crolla M van Kalmthout M Elia G Vandeweyer JP Fryns S Janssens N Foulds S Reitano K Smith S Parkel B Loeys CG Woods A Oostra F Speleman AC Pereira A Kurg L Willatt SJ Knight JR Vermeesch C Romano JC Barber G Mortier LA Pérez-Jurado F Kooy HG Brunner EE Eichler T Kleefstra T Kleefstra BB de Vries 2009 Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome J Med Genet 46 511 523 19372089 10.1136/jmg.2008.063412
29. LA Weiss Y Shen JM Korn DE Arking DT Miller R Fossdal E Saemundsen H Stefansson MA Ferreira T Green OS Platt DM Ruderfer CA Walsh D Altshuler A Chakravarti RE Tanzi K Stefansson SL Santangelo JF Gusella P Sklar BL Wu MJ Daly 2008 Association between microdeletion and microduplication at 16p11.2 and autism N Engl J Med 358 667 675 18184952 10.1056/NEJMoa075974 1:CAS:528:DC%2BD1cXhvVeitbY%3D
30. J Zhao DS Matthies EJ Botzolakis RL Macdonald RD Blakely P Hedera 2008 Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism J Neurosci 28 13938 13951 19091982 10.1523/JNEUROSCI.4668-08.2008 1:CAS:528:DC%2BD1cXhsFCqtrbL