Epilepsy in 22q11.2 Deletion Syndrome

A Case Series and Literature Review

Basanagoud Mudigoudar, Sunitha Nune, Stephen Fulton, Ehab Dayyat, James Wheless

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. Methods Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition. Results A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44%) is the most common type followed by genetic generalized epilepsy (24 of 88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings. Conclusions Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition.

Original languageEnglish (US)
Pages (from-to)86-90
Number of pages5
JournalPediatric Neurology
Volume76
DOIs
StatePublished - Nov 1 2017

Fingerprint

DiGeorge Syndrome
Generalized Epilepsy
Epilepsy
Seizures
Partial Epilepsy
Magnetic Resonance Imaging
Electroencephalography
Brain
Inborn Genetic Diseases
Neurologic Manifestations
Documentation
Atrophy
Medical Records
Polymicrogyria

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Epilepsy in 22q11.2 Deletion Syndrome : A Case Series and Literature Review. / Mudigoudar, Basanagoud; Nune, Sunitha; Fulton, Stephen; Dayyat, Ehab; Wheless, James.

In: Pediatric Neurology, Vol. 76, 01.11.2017, p. 86-90.

Research output: Contribution to journalArticle

Mudigoudar, Basanagoud ; Nune, Sunitha ; Fulton, Stephen ; Dayyat, Ehab ; Wheless, James. / Epilepsy in 22q11.2 Deletion Syndrome : A Case Series and Literature Review. In: Pediatric Neurology. 2017 ; Vol. 76. pp. 86-90.
@article{d25649a6d3f24764a863626d9184d3c7,
title = "Epilepsy in 22q11.2 Deletion Syndrome: A Case Series and Literature Review",
abstract = "Background The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. Methods Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition. Results A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44{\%}) is the most common type followed by genetic generalized epilepsy (24 of 88, 27{\%}). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings. Conclusions Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition.",
author = "Basanagoud Mudigoudar and Sunitha Nune and Stephen Fulton and Ehab Dayyat and James Wheless",
year = "2017",
month = "11",
day = "1",
doi = "10.1016/j.pediatrneurol.2017.08.011",
language = "English (US)",
volume = "76",
pages = "86--90",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Epilepsy in 22q11.2 Deletion Syndrome

T2 - A Case Series and Literature Review

AU - Mudigoudar, Basanagoud

AU - Nune, Sunitha

AU - Fulton, Stephen

AU - Dayyat, Ehab

AU - Wheless, James

PY - 2017/11/1

Y1 - 2017/11/1

N2 - Background The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. Methods Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition. Results A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44%) is the most common type followed by genetic generalized epilepsy (24 of 88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings. Conclusions Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition.

AB - Background The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. Methods Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition. Results A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44%) is the most common type followed by genetic generalized epilepsy (24 of 88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings. Conclusions Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition.

UR - http://www.scopus.com/inward/record.url?scp=85030310928&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85030310928&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2017.08.011

DO - 10.1016/j.pediatrneurol.2017.08.011

M3 - Article

VL - 76

SP - 86

EP - 90

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

ER -