While Munc18-1 interacts with Syntaxin1 and controls the formation of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNARE) complex to regulate presynaptic vesicle fusion in developed neurons, this molecule is likely to be involved in brain development since its gene abnormalities cause early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome),...

Despite advances in neuroimaging techniques over the past three decades that have helped in identifying structural lesions of the central nervous system, electroencephalography (EEG) continues to provide valuable insight into brain function by demonstrating focal or diffuse background abnormalities and epileptiform abnormalities. It is an extremely valuable test in patients suspected of epileps...

Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic Encephalopathy

PURPOSE Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia. METHODS AND RESULTS Direct sequencing of ...

Case presentation: M.S.G, 1 year old, previously healthy, suffered intoxication by acaricide (organophosphate and pyrethroid) in November 2021. Patient presented seizures, vomiting, bronchoaspiration, pneumonia, severe respiratory distress two cardiorespiratory arrests. The magnetic resonance imaging showed hemorrhagic laminar cortical necrosis slight accentuation of sulci brain fissures. He wa...

− Few studies have focused on the clinical, neurophysiological and prognostic features of adult epileptic patients with malformation of cortical development. We reviewed the clinical data of a series of sixty adult epileptic patients with different types of malformation of cortical development, who had been followed at the Epilepsy Centre of the Department of Neurological Sciences of the Univer...

PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role pre- post-natal maturation. Previously reported PHACTR1 -mutated patients showed early-onset epilepsy intellectual disability. We describe two unreported cases with de novo pathogenic variants their clinical pictures, compared those of already literature. line previous reports, presented developmental e...