Myoclonic encephalopathy in the CDKL5 gene mutation.

Objective: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation.

Methods: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.

[Epilepsy and disorders of cortical development in children with congenital cytomegalovirus infection].

Introduction: Neuroimaging and experimental studies have related cytomegalovirus (CMV) to certain neuronal migration disorders.

Material And Methods: To define the electroclinical picture of children with epilepsy associated with disorders of cortical development (DCD) and congenital CMV infection, we conducted a clinical, electroencephalographic and neuroradiological study of 10 children with this condition.

Results: Eighty per cent of them had dismorphic traits, or malformations outside CNS.

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.

Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.

4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern.

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks.