Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype

Epilepsia ◽  
2014 ◽  
Vol 55 (6) ◽  
pp. 835-840 ◽  
Author(s):  
Fahmida A. Chowdhury ◽  
Robert D. C. Elwes ◽  
Michaelis Koutroumanidis ◽  
Robin G. Morris ◽  
Lina Nashef ◽  
...  
Neurology ◽  
1998 ◽  
Vol 51 (2) ◽  
pp. 493-498 ◽  
Author(s):  
F. Zara ◽  
M. Labuda ◽  
P. Gaetano Garofalo ◽  
C. Durisotti ◽  
A. Bianchi ◽  
...  

Objective: To map the gene causing an unusual EEG pattern of delta bursts that appears to segregate as an autosomal dominant trait in an Italian family. The EEG pattern was observed in four family members affected by idiopathic generalized epilepsy (IGE) and in six other clinically unaffected members.Methods: All available family members underwent clinical and EEG examination. DNA samples were obtained and used to perform a whole-genome scan with 270 microsatellite markers. After the first linked marker was identified, 12 additional markers in the same chromosomal region were tested to confirm linkage and define a candidate interval.Results: The gene responsible for the EEG trait was mapped to an 11-cM interval on the proximal short arm of chromosome 3 (3p14.2-p12.1).Conclusion: In this family, a characteristic EEG activity is due to the effect of a single gene on chromosome 3p. A gene encoding a Ca2+ channel subunit maps in the interval and is a potential candidate for the trait. The clinical expression of epilepsy in four family members may reflect the interaction of additional genes, though environmental or other factors cannot be excluded.


2021 ◽  
Vol 13 (1S) ◽  
pp. 71-73
Author(s):  
K. Yu. Mukhin

The report presents the current principles of treatment of various types of epileptic seizures and forms of epilepsy. High efficacy and good tolerability in mono- and combination therapy with lamotrigine are shown, including its beneficial effects on cognitive function, behavior, and mood in children.


2005 ◽  
Vol 47 (2) ◽  
pp. 126-132 ◽  
Author(s):  
Yael Henkin ◽  
Michelle Sadeh ◽  
Sara Kivity ◽  
Esther Shabtai ◽  
Liat Kishon-Rabin ◽  
...  

2007 ◽  
Vol 47 (2) ◽  
pp. 126-132 ◽  
Author(s):  
Yael Henkin ◽  
Michelle Sadeh ◽  
Sara Kivity ◽  
Esther Shabtai ◽  
Liat Kishon-Rabin ◽  
...  

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
C. von Stülpnagel-Steinbeis ◽  
C. Funke ◽  
C. Haberl ◽  
K. Hörtnagel ◽  
J. Jüngling ◽  
...  

2021 ◽  
pp. 097275312096875
Author(s):  
Haritha Koganti ◽  
Shasthara Paneyala ◽  
Harsha Sundaramurthy ◽  
Nemichandra SC ◽  
Rithvik S Kashyap ◽  
...  

Background: Idiopathic generalized epilepsy is defined as seizures with a possible hereditary predisposition without an underlying cause or structural pathology. Assessment of executive dysfunction in idiopathic generalized epilepsies based on standard Indian battery is not available in the literature. Aims and Objectives: To assess specific executive functions affected in patients with idiopathic epilepsy and their association with various variables. Materials and Methods: Type of observational cross-sectional study, where clinical profile of all idiopathic epilepsy patients attending the neurology OPD was studied and their executive higher mental functions were assessed using the NIMHANS battery. Results: A total of 75 idiopathic generalized epilepsy patients were included in the study. Executive functions that were commonly found abnormal in our study were word fluency ( P ≤ .001), category fluency ( P < .001), verbal n-back ( P < .001), Tower of London ( p < 0.01), and Stroop test ( P < 0.01). Executive functions showed a significant correlation with age at symptom onset, duration of epilepsy, and in those with uncontrolled seizures. Conclusion: Patients of idiopathic generalized epilepsy according to the present study were found to have significant executive dysfunction in multiple domains. This necessitates the screening for executive dysfunctions, which if detected should prompt the clinician to initiate cognitive retraining.


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