Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy

2001 ◽  
Vol 44 (2-3) ◽  
pp. 191-195 ◽  
Author(s):  
Ortrud K. Steinlein ◽  
Bernd A. Neubauer ◽  
Thomas Sander ◽  
Luyan Song ◽  
Jens Stoodt ◽  
...  
2019 ◽  
Vol 160 (21) ◽  
pp. 835-838 ◽  
Author(s):  
Ágnes Till ◽  
Renáta Szalai ◽  
Márta Hegyi ◽  
Erzsébet Kövesdi ◽  
Gergely Büki ◽  
...  

Abstract: The advances in molecular genetic methods has lead to the discovery of the genetic alterations that underlie the etiology of most diseases previously held to be idiopathic. Targeted genetic examination of a pediatric male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy displaying a switch in epilepsy syndrome during the course of the disease towards a neurocutaneous syndrome was unsuccessful. Whole-exome sequencing identified a heterozygous missense mutation in a potassium chloride cotransporter gene, which together with the phenotype underscores the diagnosis of an epilepsy syndrome known in the literature as idiopathic generalized epilepsy type 14. Orv Hetil. 2019; 160(21): 835–838.


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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