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Article

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Epilepsy & behavior : E&B - 1 Feb 2008

Pintaudi Maria, Baglietto Maria Giuseppina, Gaggero Roberto, Parodi Elena, Pessagno Alice, Marchi Margherita, Russo Silvia, Veneselli Edvige

Abstract excerpt

Clinical features and electroencephalographic findings of two patients affected by a previously unreported cyclin-dependent kinase-like 5 (CDKL5) gene mutation are described. Both patients had the Hanefeld variant phenotype with early-onset seizures, but different degrees of clinical severity. In fact, patient 1 was not drug-resistant and is responding to a single drug. On the contrary, patient 2, like most...

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Source

Identifiers

PMID: 18063413
DOI: 10.1016/j.yebeh.2007.10.010

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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