0000000000112757
AUTHOR
Martine Lemesle
N-ACETYL-ASPARTATE ABNORMALITIES IN INTERNAL-TEMPORAL EPILEPTICUS FOCUS USING PROTON MAGNETIC-RESONANCE SPECTROSCOPY
International audience; Abstract: The aim of this study was to characterize the neurochemical abnormalities related to N-acetyl-aspartate which is a neuronal marker, within an epilepticus focus located in the internal-temporal area, using proton magnetic resonance spectroscopy, Eleven patients,with a mono-hippocampal epilepticus focus on clinical and per-critical electroencephalographical criteria, were matched with II controls by age, sex and laterality. Proton spectroscopy of a volume of 8 cm(3) was performed within the ipsilateral and the contralateral internal-temporal area and within the 2 hippocampus of controls. Volumetry of the ipsilateral and the contralateral hippocampus and of th…
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
IF 2.264; International audience; 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 3.5 years of age. All patients had developmental delay of variable severity with no or very limited la…
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. Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microd…