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Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey [Turk J Neurol]
Turk J Neurol. 2019; 25(4): 233-236 | DOI: 10.4274/tnd.galenos.2019.61214  

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey

Pınar Bekdik Şirinocak1, Barış Salman2, Fatma Yeşim Kesim2, Nerses Bebek1, Betül Baykan1, Sibel Aylin Ugur İşeri2
1Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey
2Istanbul University, Aziz Sancar Experimental Medicine Research Institute, Department of Genetics, Istanbul, Turkey

Juvenile myoclonic epilepsy (JME), characterized by predominating myoclonic seizures, is one of the most common forms of genetic generalized epilepsy. Genetic studies in JME reported susceptibility associated with EFHC1 gene. A 26-year-old male patient was admitted to our epilepsy outpatient clinic unit with one generalized tonic-clonic seizure and with previous myoclonic seizures started at the age of 17 years described as jerky movements. His neurologic examination and neuroimaging studies were normal. The family history was unremarkable. His electroencephalography was recorded under treatment and showed short-lasting paroxysms consisting of 6-7 Hz generalized slow waves and superimposed sharp contoured waves, slightly prominent over the posterior halves of the hemispheres, interpreted as generalized paroxysmal abnormality. After performing whole exom sequencing and investigating epilepsy-related genes, a heterozygous missense variant was found in EFHC1 gene causing amino acid change [rs137852776: NM_018100.4: c.685T>C;p 15 (Phe229Leu)]. His seizures are still under control with valproate 1000 mg/d. Variants in EFHC1 gene are the most commonly observed genetic abnormalities in patients with familial JME in different countries. Our study reported a EFHC1 gene variation in a patient typical JME for the first time in our country. Our finding is important for future clinical studies and genetic counseling in JME.

Keywords: Juvenile myoclonic epilepsy, EFHC1 gene, exom sequencing, risk factor, genetic susceptibility


Pınar Bekdik Şirinocak, Barış Salman, Fatma Yeşim Kesim, Nerses Bebek, Betül Baykan, Sibel Aylin Ugur İşeri. Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey. Turk J Neurol. 2019; 25(4): 233-236

Corresponding Author: Pınar Bekdik Şirinocak, Türkiye


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