Journal
ANNALS OF NEUROLOGY
Volume 75, Issue 5, Pages 788-792Publisher
WILEY-BLACKWELL
DOI: 10.1002/ana.24127
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Funding
- EuroEPINOMICS programme (DFG) within the EUROCORES framework of the European Science Foundation [SA434/5-1, BN416/5-1, LE1030/11-1, NU50/8-1]
- EuroEPINOMICS programme (FWF grant) within the EUROCORES framework of the European Science Foundation [1643-B09]
- Lung GO Sequencing Project [HL-102923]
- WHI Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- Austrian Science Fund (FWF) [I 643] Funding Source: researchfish
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Recent studies reported DEPDC5 loss-of-function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandic epilepsy (3 of 207). In addition, we identified 3 families with unclassified focal childhood epilepsies carrying predicted truncating DEPDC5 mutations (3 of 82). The detected variants were all novel, inherited, and present in all tested affected (n=11) and in 7 unaffected family members, indicating low penetrance. Our findings extend the phenotypic spectrum associated with mutations in DEPDC5 and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes.
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