Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not sufficient to conclude that TRIM8 was a novel gene responsible for EE. Here we report four additional patients presenting with EE and de novo truncating mutations of TRIM8 detected by WES, and give further details of the patient previously reported by the Epi4K consortium. Epilepsy of variable severity was diagnosed in children aged 2 months to 3.

National French survey on tele-transmission of EEG recordings: More than a simple technological challenge.

Objectives: Assessment of current practice and the need for tele-transmission and remote interpretation of EEG in France. Transmission of EEG to a distant center could be a promising solution to the problem of decreasing availability of neurophysiologists for EEG interpretation, in order to provide equity within health care services in France. This practice should logically follow the legal framework of telemedicine and the recommendations that were recently edited by the Société de neurophysiologie clinique de langue française (SNCLF) and the Ligue française contre l'épilepsie (LCFE).

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Background: DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have identified a 69 kb deletion including the 5' region of the DYRK1A gene in a patient with growth retardation, primary microcephaly, facial dysmorphism, seizures, ataxic gait, absent speech and ID.