𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

✍ Scribed by Kao, Amy ;Mariani, Juliana ;McDonald-McGinn, Donna M. ;Maisenbacher, Melissa K. ;Brooks-Kayal, Amy R. ;Zackai, Elaine H. ;Lynch, David R.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
89 KB
Volume
129A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Many neurologic abnormalities have been identified in patients with a deletion of chromosome region 22q11.2, including recurrent, apparently unprovoked seizures. We reviewed the database of patients with a 22q11.2 deletion at the Children's Hospital of Philadelphia to assess the prevalence of idiopathic epilepsy in this population. The records of 383 patients with a confirmed 22q11.2 deletion were reviewed for documentation of seizures; precipitating events such as hypocalcemia, fever, and recent surgery; MRI and EEG findings (to aid in seizure classification); and potential risk factors for epilepsy. Of 348 patients with adequately detailed histories, 27 patients had apparently unprovoked seizures (7% of the total population). A disproportionate number of these patients met criteria for generalized epilepsy. Cardiac disease and prematurity were not risk factors for the development of unprovoked seizures in this population. The prevalence of unprovoked seizures in individuals meeting criteria for epilepsy in patients with a 22q11.2 deletion evaluated at our institution is much greater than in the general population. The association with generalized epilepsy suggests that this increased risk is a primary manifestation of the genetic syndrome, not a secondary result of the other manifestations of 22q11.2 deletions. These results suggest that diagnostic screening for the 22q11.2 deletion syndrome should be considered in patients with epilepsy and other signs suggestive of this interstitial deletion syndrome, and have implications for the identification of potential genetic loci for idiopathic epilepsy. Β© 2004 Wiley‐Liss, Inc.

πŸ“œ SIMILAR VOLUMES

Prevalence of 22q11 region deletions in
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency
✍ Zori, Roberto T.; Boyar, Fatih Z.; Williams, William N.; Gray, Brian A.; Bent-Wi πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 3 views

## Velo -cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency

Hemophagocytic lymphohistiocytosis in a
Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2
✍ AricοΏ½, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Gra πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 3 views

We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira

22q11.2 deletion mosaicism in patients w
22q11.2 deletion mosaicism in patients with conotruncal heart defects
✍ Li Jianrong; Liu Yinglong; Lv Xiaodong; Yu Cuntao; Cui Bin; Wei Bo πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 87 KB πŸ‘ 1 views

## Abstract ## BACKGROUND Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral blood‐cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth

Skeletal anomalies and deformities in pa
Skeletal anomalies and deformities in patients with deletions of 22q11
✍ Ming, Jeffrey E.; McDonald-McGinn, Donna M.; Megerian, Tanya E.; Driscoll, Debor πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 3 views

Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxi