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Article

Myoclonic encephalopathy in the CDKL5 gene mutation.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jan 2006

Buoni Sabrina, Zannolli Raffaella, Colamaria Vito, Macucci Francesca, di Bartolo Rosanna M, Corbini Letizia, Orsi Alessandra, Zappella Michele, Hayek Joseph

Abstract excerpt

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 9.5, 7.4, and 9.4 years, each with a...

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Source

Identifiers

PMID: 16326141
DOI: 10.1016/j.clinph.2005.09.008

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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