The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early 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...

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been recognized as a cause of epileptic encephalopathy, which is characterized by refractory seizures with developmental delay and cognitive disability. We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included seizures, ataxia, and sudden une...

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathies

Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...