Genetic and neurobio­logical aspects of comorbid occurence of autism spectrum disorder and epilepsy

Authors: P. Danhofer 1;  O. Horák 1;  Š. Aulická 1;  K. Česká 1;  J. Pejčochová 1;  L. Fajkusová 2;  H. Ošlejšková 1
Authors‘ workplace: Klinika dětské neurologie LF MU a FN Brno, Centrum pro epilepsie Brno 1;  Centrum molekulární biologie a genové terapie Interní hematoonkologické kliniky LF MU a FN Brno 2
Published in: Cesk Slov Neurol N 2019; 82(2): 148-154
Category: Review Article


Autism spectrum disorder (ASD) is ranked among neurodevelopmental and neuropsychiatric disorders with clinical onset in childhood. In recent years, this disorder has come to the forefront of scientific interest, mainly due to increasing prevalence of up to 1/ 68 in 2014. The genetic causes of the disorder and the pathophysiological mechanisms that might be involved in the development of ASD are revealed. Comorbid occur­rence with epilepsy is quite com­mon, in up to 46% of cases. This article sum­marizes the cur­rent knowledge in this field with a focus on the hypothesis of excitatory-inhibitory imbalance. Some genetic causes of ASD and cur­rent dia­gnostic options are also discus­sed. The pathophysiology of the co-morbidity of ASD and epilepsy is discus­sed in terms of pos­sible therapeutic interventions.


Genetics – Autism – Epilepsy – Autism spectrum disorder – ASD


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