Molecular and genetic insights into an infantile epileptic encephalopathy – CDKL5 disorder

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathy

Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...

Early Infantile Epileptic Encephalopathy Panel

12/17 Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. EEG reveals suppression-burst patterns, characterized by highvoltage bursts alternating with almost flat suppression phases. Seizures are medically intractable...

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections. PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCDH19 mutations were initially identified in epi...

Insights into the autistic disorder and potential therapeutic approaches

Autism and autism spectrum disorders (ASDs) such as Rett syndrome and Asperger syndromeare enigmatic and complex neurodevelopmental disorders, thought to have originated inparticular interactions of genetic and environmental factors. Despite the extensive research,exact mechanism of pathogenesis is not still completely understood. ASDs are characterizedby deficits and abnormalities in communica...