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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Epileptic syndromes: From clinic to genetic
Abbas Tafakhori1, Vajiheh Aghamollaii2, Sara Faghihi-Kashani3
1Department of Neurology, School of Medicine, Imam Khomeini Hospital AND Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Abstract:
Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management.
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