Fabienne Picard

TL;DR: The role of DEPDC5 is extended to focal cortical dysplasias (FCDs) in familial focal epilepsies by extending the role of mTORC1 repressor toDEP domain‐containing protein 5.

TL;DR: These findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies and the implication of a DEP domain–containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research.

TL;DR: A clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues, finds four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels located in this region are strong candidates for the disease gene.

TL;DR: Three patients with drug‐resistantNocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined nocturnal frontal lobe epilepsy (NFLE) or autosomal dominant NLFE (ADNFLE), whose intracerebral EEG ictal onset primarily involved the insula, rather than the mesial or orbital frontal cortex.

TL;DR: It was recommended that the name be changed to sleep-related hypermotor epilepsy (SHE), reflecting evidence that the attacks are associated with sleep rather than time of day, the seizures may arise from extrafrontal sites, and the motor aspects of the seizures are characteristic.