Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 341-342

  Kaur, A ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22Q; DEPDC5 GENE; EPIGENETICS; EXOME; FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; IMMUNOFLUORESCENCE; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION;

ANIMALS; BRAIN; EPILEPSIES, PARTIAL; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MUTATION;

EID: 84883828127     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12239     Document Type: Article

References (2)

1. Wang X, Xiao F. Familial focal epilepsy with variable foci. In: Panayiotopoulos C, ed. Atlas of epilepsies, Vol. 3. SpringerReference (www.springerreference.com)., Springer-Verlag London Ltd. 2010: 1147-1152.
2. Klein KM, O'Brien TJ, Praveen K et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia 2012: 53 (8): e151-e155.