Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Nature Genetics

Volumn 45, Issue 5, 2013, Pages 546-551

  Dibbens, Leanne M ^a   De Vries, Boukje ^b   Donatello, Simona ^c   Heron, Sarah E ^a   Hodgson, Bree L ^a   Chintawar, Satyan ^c   Crompton, Douglas E ^d,e   Hughes, James N ^f   Bellows, Susannah T ^e   Klein, Karl Martin ^e,g   Callenbach, Petra M C ^h   Corbett, Mark A ⁱ   Gardner, Alison E ⁱ   Kivity, Sara ^j   Iona, Xenia ^a   Regan, Brigid M ^e   Weller, Claudia M ^b   Crimmins, Denis ^k   O'Brien, Terence J ^e   Guerrero López, Rosa ^l   Mulley, John C ^f,i,m   Dubeau, Francois ⁿ   Licchetta, Laura ^o   Bisulli, Francesca ^o   Cossette, Patrick ^p   Thomas, Paul Q ^f   Gecz, Jozef ^f,m   Serratosa, Jose ^l   F Brouwer, Oebele ^h   Andermann, Frederick ⁿ   Andermann, Eva ⁿ   Van Den Maagdenberg, Arn M J M ^b   Pandolfo, Massimo ^c   Berkovic, Samuel F ^e   Scheffer, Ingrid E ^e,q   more..

^a UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^d NORTHERN HEALTH   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF ADELAIDE   (Australia)

^g UNIVERSITY HOSPITAL MARBURG   (Germany)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^j SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^k Central Coast Area Health Authority   (Australia)

^l HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^m UNIVERSITY OF ADELAIDE   (Australia)

ⁿ MCGILL UNIVERSITY   (Canada)

^o UNIVERSITY OF BOLOGNA   (Italy)

^p CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^q FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; ION CHANNEL; NICOTINIC RECEPTOR ALPHA4; NICOTINIC RECEPTOR BETA2; PLECKSTRIN;

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DAMAGE; BRAIN REGION; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEPDC5 GENE; FAMILIAL DISEASE; FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI; FEBRILE CONVULSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IMMUNOFLUORESCENCE; INFANT; INTELLECTUAL IMPAIRMENT; MENTAL DISEASE; MISSENSE MUTATION; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCHOOL CHILD; SIGNAL TRANSDUCTION; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; ADULT; ANIMALS; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPUTATIONAL BIOLOGY; EPILEPSIES, PARTIAL; EXOME; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; MICE; MIDDLE AGED; MUTATION; NEURONS; PEDIGREE; PLURIPOTENT STEM CELLS; YOUNG ADULT;

EID: 84878352545     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2599     Document Type: Article

References (26)

1. Scheffer, I.E. et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann. Neurol. 44, 890-899 (1998).
2. Xiong, L. et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am. J. Hum. Genet. 65, 1698-1710 (1999).
3. Callenbach, P.M.C. et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 44, 1298-1305 (2003).
4. Berkovic, S.F. et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 45, 1054-1060 (2004).
5. Klein, K.M. et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia 53, e151-e155 (2012).
6. Morales-Corraliza, J. et al. Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Epilepsia 51, 1910-1914 (2010).
7. Firth, H.V. et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Am. J. Hum. Genet. 84, 524-533 (2009).
8. Heron, S.E., Scheffer, I.E., Berkovic, S.F., Dibbens, L.M. & Mulley, J.C. Channelopathies in idiopathic epilepsy. Neurotherapeutics 4, 295-304 (2007).
9. Heron, S.E. et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturanl frontal lobe epilepsy. Nat. Genet. 44, 1188-1190 (2012).
10. Mulley, J.C. & Dibbens, L.M. Genetic variations and associated pathophysiology in the management of epilepsy. Appl. Clin. Genet. 4, 113-125 (2011).
11. Chen, S. & Hamm, H.E. DEP domains: more than just membrane anchors. Dev. Cell 11, 436-438 (2006).
12. Simons, M. et al. Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization. Nat. Cell Biol. 11, 286-294 (2009).
13. Kharrat, A. et al. Conformational stability studies of the pleckstrin DEP domain: definition of the domain boundaries. Biochim. Biophys. Acta 1385, 157-164 (1998).
14. Pan, W.J. et al. Characterization of function of three domains in dishevelled-1: DEP domain is responsible for membrane translocation of dishevelled-1. Cell Res. 14, 324-330 (2004).
15. Park, M. & Shen, K. WNTs in synapse formation and neuronal circuitry. EMBO J. 31, 2697-2704 (2012).
16. Kinton, L. et al. Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15. Ann. Neurol. 51, 740-749 (2002).
17. Scheffer, I.E. & Berkovic, S.F. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogenous clinical phenotypes. Brain 120, 479-490 (1997).
18. Sharp, A.J. et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40, 322-328 (2008).
19. Helbig, I. et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet. 41, 160-162 (2009).
20. Crompton, D.E. et al. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 133, 3221-3231 (2010).
21. Reutens, D.C., Howell, R.A., Gebert, K.E. & Berkovic, S.F. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 33, 1065-1071 (1992).
22. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
23. Kouadjo, K.E., Nishida, Y., Cadrin-Girard, J.F., Yoshioka, M. & St-Amand, J. Housekeeping and tissue-specific genes in mouse tissues. BMC Genomics 8, 127 (2007).
24. Yu, J. et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 318, 1917-1920 (2007).
25. Dottori, M. & Pera, M.F. Neural differentiation of human embryonic stem cells. Methods Mol. Biol. 438, 19-30 (2008).
26. Witcher, M., Ross, D.T., Rousseau, C., Deluca, L. & Miller, W.H. Synergy between all-trans retinoic acid and tumor necrosis factor pathways in acute leukemia cells. Blood 102, 237-245 (2003).