Allelic association of a truncation mutation of theKCNMB3 gene with idiopathic generalized epilepsy

2006 ◽  
Vol 144B (1) ◽  
pp. 10-13 ◽  
Author(s):  
Susanne Lorenz ◽  
Armin Heils ◽  
Johannes M. Kasper ◽  
Thomas Sander
Keyword(s):  
Allelic Association ◽  
Idiopathic Generalized Epilepsy ◽  
Truncation Mutation ◽  
Generalized Epilepsy

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy

2007 ◽  
Vol 74 (1) ◽  
pp. 28-32 ◽  
Author(s):  
Anne Hempelmann ◽  
Joana Cobilanschi ◽  
Armin Heils ◽  
Hiltrud Muhle ◽  
Ulrich Stephani ◽  
...  
Keyword(s):  
Promoter Polymorphism ◽  
Allelic Association ◽  
Idiopathic Generalized Epilepsy ◽  
Generalized Epilepsy

A New SYNGAP1 Stop Mutation in a Patient with Idiopathic Generalized Epilepsy Showing Photosensitivity and Electroencephalography Normalization after Eye Opening

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
C. von Stülpnagel-Steinbeis ◽  
C. Funke ◽  
C. Haberl ◽  
K. Hörtnagel ◽  
J. Jüngling ◽  
...  
Keyword(s):  
Idiopathic Generalized Epilepsy ◽  
Stop Mutation ◽  
Eye Opening ◽  
Generalized Epilepsy

scholarly journals The Impact of Idiopathic Generalized Epilepsy on Executive Functions

2021 ◽  
pp. 097275312096875
Author(s):  
Haritha Koganti ◽  
Shasthara Paneyala ◽  
Harsha Sundaramurthy ◽  
Nemichandra SC ◽  
Rithvik S Kashyap ◽  
...  
Keyword(s):  
Executive Functions ◽  
Executive Dysfunction ◽  
Cross Sectional Study ◽  
Idiopathic Epilepsy ◽  
Idiopathic Generalized Epilepsy ◽  
Word Fluency ◽  
Cross Sectional ◽  
Generalized Epilepsy ◽  
Multiple Domains ◽  
The Impact

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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