Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in 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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2019-12-01
|
| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-61214&look4= |
| _version_ | 1797911099111112704 |
|---|---|
| author | Pınar Barış Fatma Yeşim Nerses Betül Sibel Aylin |
| author_facet | Pınar Barış Fatma Yeşim Nerses Betül Sibel Aylin |
| author_sort | Pınar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T11:35:03Z |
| format | Article |
| id | doaj.art-213ca41ea7f946eabc9fed63b80090ec |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T11:35:03Z |
| publishDate | 2019-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-213ca41ea7f946eabc9fed63b80090ec2023-02-15T16:17:54ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452019-12-0125423323610.4274/tnd.galenos.2019.61214Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in TurkeyPınar0Barış1Fatma Yeşim2Nerses3Betül4Sibel Aylin5Bekdik ŞirinocakSalmanKesimBebekBaykanUgur İşeriJuvenile 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.http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-61214&look4=juvenile myoclonic epilepsyefhc1 geneexom sequencingrisk factorgenetic susceptibility |
| spellingShingle | Pınar Barış Fatma Yeşim Nerses Betül Sibel Aylin Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey Türk Nöroloji Dergisi juvenile myoclonic epilepsy efhc1 gene exom sequencing risk factor genetic susceptibility |
| title | Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey |
| title_full | Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey |
| title_fullStr | Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey |
| title_full_unstemmed | Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey |
| title_short | Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey |
| title_sort | susceptibility to juvenile myoclonic epilepsy associated with the efhc1 gene first case report in turkey |
| topic | juvenile myoclonic epilepsy efhc1 gene exom sequencing risk factor genetic susceptibility |
| url | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-61214&look4= |
| work_keys_str_mv | AT pınar susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey AT barıs susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey AT fatmayesim susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey AT nerses susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey AT betul susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey AT sibelaylin susceptibilitytojuvenilemyoclonicepilepsyassociatedwiththeefhc1genefirstcasereportinturkey |