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DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family Volume 21, numéro 1, February 2019

  • [Baulac et al., 2015] Baulac S., Shida S., Marsan E. Familial focal epilepsy with focal cortical displasia due to mutations. Ann Neurol. 2015;77:675-683. DEPDC5
  • [Callenbach et al., 2003] Callenbach P., Van den Maagdenberg A., Hottenga J. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia. 2003;44:1298-1305.
  • [Dibbens et al., 2013] Dibbens L., De Vries B., Donatello S. Mutations in cause familial focal epilepsy with variable foci. Nat Genet. 2013;45:546-551. DEPDC5
  • [Ishida et al., 2013] Ishida S., Picard F., Rudolf G. Mutations of cause autosomal dominant focal epilepsies. Nat Genet. 2013;45:552-555. DEPDC5
  • [Klein et al., 2012] Klein K.M., O’Brien T.J., Praveen K. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia. 2012;53:e151-e155.
  • [Koile et al., 2018] Koile D., Cordoba M., De Sousa Serro M., Kauffman M.A., Yankilevich P. GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. BMC Bioinformatics. 2018;19:25.
  • [Morales-Corraliza et al., 2010] Morales-Corraliza J., Gomez-Garre P., Sanz R., Diaz Otero G., Gutierrez Delicado E., Serratosa J.M. Familial focal epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Epilepsia. 2010;51:1910-1914.
  • [Nascimento et al., 2015] Nascimento F.A., Borlot F., Cossette P., Minassian B.A., Andrade D.M. Two definite cases of sudden unexpected death in epilepsy in a family with a mutation. Neurol Genet. 2015;1:e28. DEPDC5
  • [Ricos et al., 2016] Ricos M.G., Hodgson B.L., Pippucci T. Mutations in the mTOR pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol. 2016;79:120-131.
  • [Scerri et al., 2015] Scerri T., Riseley J., Gillies G. Familial cortical displasia type IIA caused by a germline mutation in . Ann Clin Transl Neurol. 2015;2:575-580. DEPDC5
  • [Scheffer et al., 1998] Scheffer I.E., Phillips H.A., O’Brien C.E. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol. 1998;44:890-899.
  • [Scheffer et al., 2014] Scheffer I.E., Heron S.E., Regan B.M. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014;75:782-787.
  • [Tsai et al., 2017] Tsai M.H., Chan C.K., Chang Y.C. mutations in familial and sporadic focal epilepsy. Clin Genet. 2017;92:397-404. DEPDC5
  • [Weckhuysen et al., 2016] Weckhuysen S., Marsan E., Lambrecq V. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016;57:994-1003.
  • [Xiong et al., 1999] Xiong L., Labuda M., Li D. Mapping of a gene determining familial focal epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet. 1999;65:1698-1710.