UNIGE document Scientific Article - Case report
previous document  unige:123732  next document
add to browser collection

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report

Bernasconi, Andrea
Lübbig, Anja
Nangia, Srishti
Ramelli, Gian Paolo
Wohlrab, Gabriele
show hidden authors show all authors [1 - 10]
Published in Developmental Medicine and Child Neurology. 2018, vol. 60, no. 1, p. 100-105
Abstract In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions.
Keywords AdolescentCadherins/geneticsChildChildPreschoolComorbidityEpilepsy/epidemiology/genetics/physiopathologyFemaleHumansMagnetic Resonance ImagingMalformations of Cortical Development/diagnostic imaging/epidemiology/genetics/pathology
PMID: 29064093
Full text
Article (Published version) (825 Kb) - document accessible for UNIGE members only Limited access to UNIGE
(ISO format)
KURIAN, Mary et al. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. In: Developmental Medicine and Child Neurology, 2018, vol. 60, n° 1, p. 100-105. doi: 10.1111/dmcn.13595 https://archive-ouverte.unige.ch/unige:123732

193 hits

1 download


Deposited on : 2019-10-01

Export document
Format :
Citation style :