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Updated: Jun 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
[Current prospects of genetics in epilepsy diagnostics--when and what?]
Johanna Uusimaa1, Eija Gaily, Jaakko Ignatius
1lasten ja nuorten klinikka, lastenneurologian yksikkö ja Kliinisen tutkimuksen keskus, Oulun yliopistollinen sairaala.
Abstract:
Genetic factors have been estimated to affect the development of epilepsy in as many as 40% of the patients. Several genes have been identified underlying rare epileptic syndromes. Most epilepsies are most likely caused by a combined effect of several genes and environmental factors, and the genetic background of these diseases remains to be largely unknown. In practice, DNA diagnostics is possible only in a small proportion of epilepsy patients. In some cases gene testing is, however, an essential tool in diagnosis, e.g. facilitating the planning of pharmacological therapy for the patient's epilepsy.
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