Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

doi:10.1111/j.1528-1167.2012.03649.x

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Article

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Epilepsia - 1 Dec 2012

Marini Carla, Darra Francesca, Specchio Nicola, Mei Davide, Terracciano Alessandra, Parmeggiani Lucio, Ferrari Annarita, Sicca Federico, Mastrangelo Massimo, Spaccini Luigina, Canopoli Maria Lucia, Cesaroni Elisabetta, Zamponi Nelia, Caffi Lorella, Ricciardelli Paolo, Grosso Salvatore, Pisano Tiziana, Canevini Maria Paola, Granata Tiziana, Accorsi Patrizia, Battaglia Domenica, Cusmai Raffaella, Vigevano Federico, Dalla Bernardina Bernardo, Guerrini Renzo

Abstract excerpt

PURPOSE: Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series...

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PMID: 22946748
DOI: 10.1111/j.1528-1167.2012.03649.x

Genes

PCDH19

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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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