DEPDC5 mutations in epilepsy with auditory features

Epilepsia

Volumn 57, Issue 2, 2016, Pages 335-

  Bisulli, Francesca ^a,b   Licchetta, Laura ^a,b   Baldassari, Sara ^c,d   Pippucci, Tommaso ^c   Tinuper, Paolo ^a,b  

^a IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT EPILEPSY; AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; DEPDC5 GENE; EPILEPSY; FAMILIAL MESIAL TEMPORAL LOBE EPILEPSY; FEBRILE CONVULSION; GENE; GENE FREQUENCY; GENETIC SCREENING; HEARING DISORDER; HUMAN; LETTER; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY; TONIC SEIZURE; WAKEFULNESS; FAMILY HEALTH; FEMALE; GENETICS; MALE; MUTATION;

REPRESSOR PROTEIN;

EPILEPSY, TEMPORAL LOBE; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; REPRESSOR PROTEINS;

EID: 84959278799     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13233     Document Type: Letter

References (5)

1. Striano P, Serioli E, Santulli L, et al., DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia 2015; 56: e168-e171 doi: 10.1111/epi.13094 [Epub ahead of print].
2. Berg AT, Berkovic SF, Brodie MJ, et al., Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676-685.
3. Pippucci T, Licchetta L, Baldassari S, et al., Epilepsy with auditory features: a heterogeneous clinico-molecular disease. Neurol Genet 2015; 1: e5.
4. Scheffer IE, Heron SE, Regan BM, et al., Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014; 75: 782-787.
5. Nguyen LH, Brewster AL, Clark ME, et al., mTOR inhibition suppresses established epilepsy in a mouse model of cortical dysplasia. Epilepsia 2015; 56: 636-646.