Epilepsy in patients with duplications of chromosome 14 harboring FOXG1

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Abstract

Background Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development. Patients We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings. Results To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties. Conclusions There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.

Original languageEnglish
Pages (from-to)530-535
Number of pages6
JournalPediatric Neurology
Volume50
Issue number5
DOIs
Publication statusPublished - 2014

Fingerprint

Chromosomes, Human, Pair 14
Epilepsy
Seizures
Spasm
Forkhead Transcription Factors
Infantile Spasms
Microcephaly
Motor Skills
Gene Dosage
Brain
Transcription Factors

Keywords

  • chromosome 14 duplication
  • epilepsy
  • epileptic spasms
  • FOXG1
  • genetic

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology
  • Medicine(all)

Cite this

@article{0928cce072744b0987d14997f2581370,
title = "Epilepsy in patients with duplications of chromosome 14 harboring FOXG1",
abstract = "Background Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development. Patients We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings. Results To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties. Conclusions There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.",
keywords = "chromosome 14 duplication, epilepsy, epileptic spasms, FOXG1, genetic",
author = "Giuseppe Pontrelli and Simona Cappelletti and Dianela Claps and Pietro Sirleto and Laura Ciocca and Stefano Petrocchi and Alessandra Terracciano and Domenico Serino and Lucia Fusco and Federico Vigevano and Nicola Specchio",
year = "2014",
doi = "10.1016/j.pediatrneurol.2014.01.022",
language = "English",
volume = "50",
pages = "530--535",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "5",

}

TY - JOUR

T1 - Epilepsy in patients with duplications of chromosome 14 harboring FOXG1

AU - Pontrelli, Giuseppe

AU - Cappelletti, Simona

AU - Claps, Dianela

AU - Sirleto, Pietro

AU - Ciocca, Laura

AU - Petrocchi, Stefano

AU - Terracciano, Alessandra

AU - Serino, Domenico

AU - Fusco, Lucia

AU - Vigevano, Federico

AU - Specchio, Nicola

PY - 2014

Y1 - 2014

N2 - Background Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development. Patients We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings. Results To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties. Conclusions There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.

AB - Background Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development. Patients We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings. Results To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties. Conclusions There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.

KW - chromosome 14 duplication

KW - epilepsy

KW - epileptic spasms

KW - FOXG1

KW - genetic

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U2 - 10.1016/j.pediatrneurol.2014.01.022

DO - 10.1016/j.pediatrneurol.2014.01.022

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AN - SCOPUS:84921424986

VL - 50

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JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

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