scholarly journals Cognitive phenotypes in childhood idiopathic epilepsies

2016 ◽  
Vol 61 ◽  
pp. 269-274 ◽  
Author(s):  
Bruce P. Hermann ◽  
Qianqian Zhao ◽  
Daren C. Jackson ◽  
Jana E. Jones ◽  
Kevin Dabbs ◽  
...  
Keyword(s):  
Idiopathic Epilepsies

Focal “Idiopathic” Epilepsies of Infancy

2019 ◽  
pp. 431-444
Author(s):  
Elena Gardella ◽  
Gaetano Cantalupo
Keyword(s):  
Idiopathic Epilepsies

Taurine transport in epilepsy.

1980 ◽  
Vol 26 (3) ◽  
pp. 414-419 ◽  
Author(s):  
H O Goodman ◽  
B M Connolly ◽  
W McLean ◽  
M Resnick
Keyword(s):  
Genetic Control ◽  
Plasma Concentrations ◽  
Taurine Transport ◽  
Taurine Concentration ◽  
Control Subjects ◽  
Principal Finding ◽  
Idiopathic Epilepsies ◽  
And Control

Abstract Previous studies of plasma taurine concentrations in epileptics have yielded equivocal results. We measured plasma and urinary taurine in 41 epileptic and 68 control subjects and found plasma concentrations among epileptics to be comparable in general to those of controls, but that two or three classes of plasma taurine concentrations, possibly genetically regulated, occur in both epileptic and control subjects. Our previous studies and data from the present study on taurine excretion revealed three excretion classes under genetic control. The principal finding is that epileptics include disproportionate numbers of low excretors (high reabsorbers), who are presumptive homozygotes for the allele effecting higher reabsorption. If confirmed, these findings suggest that the transport of taurine, rather than absolute taurine concentration, may explain the efficacy of taurine administration in some epileptics but not in others. The locus involved may be one component in the polygenic diathesis to the idiopathic epilepsies.

scholarly journals Mechanismen genetischer Epilepsien

e-Neuroforum ◽  
2013 ◽  
Vol 19 (2) ◽  
Author(s):  
Ulrike Hedrich ◽  
Snezana Maljevic ◽  
Holger Lerche
Keyword(s):  
Ion Channels ◽  
Secondary Effects ◽  
Therapeutic Approaches ◽  
Neuronal Populations ◽  
The Everyday ◽  
The Common ◽  
Genetic Epilepsies ◽  
Idiopathic Epilepsies ◽  
The Brain

AbstractMechanisms of genetic epilepsies. Epilepsy is one of the most common neurological disorders. Already at the time of Hippocrates (460 - 370 BC) it was reported on as the “holy disease” (Fröscher 2004). Today it is known that an epileptic seizure is a consequence of synchronous discharges of neuronal populations in the brain, which abruptly and usually without an observ­able cause evoke involuntary behavioural dysfunction or impaired consciousness. Epilepsies can have various causes and lead to extensive implications for the everyday life of affected patients. Up to 50 % of all epilepsies are caused by genetic defects, in particular the so-called idiopathic epilepsies which occur without easily observable structural alterations of the brain. Genetically caused dysfunctions of neuronal ion channels play a central role in the formation of such epilepsies. The ion channels control the ion flux over the cell membrane of neurons and thus present the basis for the excitability of these neurons. Therefore, medications used for epilepsy treatment affect predominantly ion channels. However, the common anticonvulsants have limited success, not only because one third of epilepsy patients exhibits pharmacoresistance, but also because of the secondary effects which can dramatically affect their quality of life. Furthermore, current therapeutic approaches are mainly symptomatic and do not act on the epileptogenic mechanisms which are still largely unknown. In this review article we will highlight the current main topics of our research on genetically caused epilepsies, their pathomechanisms and therapeutic options.

Advances on the Genetics of Mendelian Idiopathic Epilepsies

2010 ◽  
Vol 30 (4) ◽  
pp. 911-929 ◽  
Author(s):  
Stéphanie Baulac ◽  
Michel Baulac
Keyword(s):  
Idiopathic Epilepsies

Do Seizures Promote Epileptogenesis and Cause Cognitive Decline?

2015 ◽  
Vol 9 (2) ◽  
pp. 120 ◽  
Author(s):  
Giuliano Avanzini ◽  
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Cognitive Decline ◽  
Temporal Lobe ◽  
Mesial Temporal Lobe Epilepsy ◽  
Epileptic Activity ◽  
Epileptic Encephalopathies ◽  
Mesial Temporal Lobe ◽  
Developmental Programme ◽  
Idiopathic Epilepsies ◽  
Underlying Pathology

The assumption that repeated seizures may induce a progression of epilepsies towards an intractable condition and a cognitive decline does not hold true for idiopathic epilepsies but can only be considered for mesial temporal lobe epilepsy and epileptic encephalopathies. The available evidence leads to the conclusion that in most cases the epilepsy worsening and cognitive decline are due to the progression of the underlying pathology or to its interference with the developmental programme, the notable exception being the epileptic encephalopathies with continuous epileptic activity during sleep.

scholarly journals Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities

Epilepsia ◽  
2007 ◽  
Vol 48 (9) ◽  
pp. 1678-1685 ◽  
Author(s):  
Carla Marini ◽  
Davide Mei ◽  
Teresa Temudo ◽  
Anna Rita Ferrari ◽  
Daniela Buti ◽  
...  
Keyword(s):  
Idiopathic Epilepsies

Advances on the Genetics of Mendelian Idiopathic Epilepsies

2009 ◽  
Vol 27 (4) ◽  
pp. 1041-1061 ◽  
Author(s):  
Stéphanie Baulac ◽  
Michel Baulac
Keyword(s):  
Idiopathic Epilepsies
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