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Article

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

European journal of medical genetics - 1 Jan 2021

Currò Aurora, Doddato Gabriella, Bruttini Mirella, Zollino Marcella, Marangi Giuseppe, Zappella Michele, Renieri Alessandra, Pinto Anna Maria

Abstract excerpt

Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known genetic conditions, with a defined phenotype sharing some common characteristics like early-onset...

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Identifiers

PMID: 33220470
DOI: 10.1016/j.ejmg.2020.104102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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