EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.

OBJECTIVES: Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort study aimed to examine the frequency of EFHC1 gene variants in Turkish JME patients and a healthy control group and evaluate the association between these mutations and disease risk. METHODS: We screened 72 JME patients with a mean age of 31.8 ± 9.9 (20-65) years and 35 controls with a mean age of 29.1 ± 7.6 (17-50) years from southern Turkey using direct sequencing analyses. RESULTS: EFCH1 single nucleotide variants were detected in 24 of 72 JME patients and 3 of 35 controls. The most common mutations were R182H in JME patients (p = 0.010) and 3'UTR in the control group (p < 0.001). The R182H mutation is a common variant in JME (95 % CI: 1.232-76.580, p = 0.031) and the 3'UTR mutation may be associated with lower risk of JME in the Turkish population (95 % CI: 13.89-166.67, p < 0.001). SIGNIFICANCE: Our results indicate that EFHC1 gene variants carry a risk for JME and the 3'UTR variant may have a protective role against JME in the Turkish population. Screening for other genes is needed to further clarify the genetic inheritance of JME in Turkish patients.

Prognostic indicators of non-convulsive status epilepticus in intensive care unit.

BACKGROUND: To determine the rate of non-convulsive status epilepticus with/without prominent motor phenomena (SE-PM/ NCSE) and predictive value of electroclinical findings of continious electroencephalography (cEEG) monitoring of these patients and its association with prognosis in intensive care units (ICU). METHODS: We retrospectively collected data of 218 patients whose cEEG was performed in ICU between 2016 and 2018. The cEEG for NCSE diagnosis was evaluated according to Salzburg Consensus Criteria (SCC). RESULTS: The mean age of patients was 57.09 ± 18.9 (16-95) years and 49.1% (107) were female. Of 218 patients, 32 (14.7%) had SE-PM/NCSE. According to SCC the rate of NCSE (NCSE + possible NCSE) was 9.6% (n = 21). Prior to cEEG recording, 38.9% (n = 85) of overall patients had a history of seizure/convulsion, and 22.7% (n = 21) of these patients diagnosed with NCSE based on cEEG. The mortality rates in critically ill patients were 41.3% (30.8%, 42.8%; for SE-PM and NCSE respectively). Prognosis was associated with age, epilepsy diagnosis, having convulsion/seizure history on follow-up, GCS, need for ventilation, kind of drugs, sepsis diagnosis, and minimum frequency of background activity of the cEEG (p = 0.001, 0.002, 0.001, 0.020, 0.001, 0.001, 0.001, 0.0001 respectively). CONCLUSIONS: NCSE findings are mostly found in patients who were comatose and had seizure/convulsion history on follow-up. Mortality is higher in patients diagnosed with NCSE followed in the ICU compared to SE-PM.

Lyme disease presenting as subacute transverse myelitis.

Lyme disease (borreliosis) is a systemic illness resulting from infection with the spirochete Borrelia burgdorferi. It is transmitted to humans by the bites of infected ticks belonging to several species of the genus Ixodes. After the bacteria enter the body via the dermis, most patients develop the early, localised form of Lyme disease, which is characterised by erythema migrans and influenza-like symptoms. This disease may also affect the heart, nervous system and joints. The neurological findings of this disease may include peripheral and central nervous system signs. A 21-year-old woman attended a family medicine outpatient clinic complaining of unexplained pain and muscle power loss in her lower extremities. The problem had started in her right leg 3 months earlier and worsened in the last week. She had a neurology consultation and was hospitalised. Her neurological examination revealed bilateral facial paralysis and sensory impairment. Immunoglobulin M antibody to B. burgdorferi was positive on Western blotting in both serum and cerebrospinal fluid. The patient was diagnosed with subacute neuroborreliosis and treated.