Authors (including presenting author) :
Yuen CL (1)
Li YM (1)
Ho HT (1)
Affiliation :
(1) Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital
Introduction :
With the release of ILAE classification of seizures and the epilepsies in 2020, the finding of an epilepsy syndromes plays a major role in the diagnosis of epilepsy, which in turn, highly relies on the pursuit of the underlying genetic causes of the epilepsy syndromed. Precision medicine - treatments targeted to the needs of individual patients base on their own characteristics and distinguish them from others with similar presentations. Epilepsy management is therefore an excellent model to apply genetics and precision medicine in clinical practice.
Objectives :
We described 12 cases of early onset epilepsy patients who performed EIEE (Early Infantile Epileptic Encephalopathy) genetic panel with identifiable disease causing genes. We focused on how a combination of clinical assessment and an early genetic diagnosis can help with the actual implementation of precision medicine in daily clinical practice.
Methodology :
Case series
Result & Outcome :
Identified genes including SCN1A, SLC2A1, KCNQ2 and PRRT2. All of them are well studied causes of epilepsy syndromes, with known phenotype-genotype manifestations and available specific treatments or combination of treatments. Patients can be benefited in the form of: reduce prolonged, unnecessary and invasive investigations to look for the actual diagnosis, early adoption of specific treatments according to the underlying disease causing mechanisms and a detailed counselling of the prognosis to reduce the anxiety of the patients or carers.
