Molecular typing of familial temporal lobe epilepsy

Abstract

The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database. These types of FTLE were caused by different genes/Loci and had distinct characteristics. ETL1, ETL7 and ETL10 were characterized by auditory, visual and aphasia seizures, leading to the diagnosis of familial lateral TLE. ETL2, ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities, indicating a mesial temporal origin. Febrile seizures were common in FTLEs such as ETL2, ETL5, ETL6 and ETL11. ETL4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual aura. Considering the diversity and complexity of the symptoms of TLE, neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases carefully. Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene. The pathogenic mechanism was diverse among these genes and spans disturbances of neuron development, differentiation and synaptic signaling. In this article, we describe the research progress on eleven different types of FTLE. The precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder.

Serum Level of Interleukin 6 in Children with Febrile Seizures

“…Table 4 showed the hematological data between the three groups, there were no significant differences regarding Hb and ESR. However, CRP and PLT were significantly Lower in group [3] than group [1] and group [2]. Moreover, WBCs was significantly higher in group [2] than group [1] and group [3].…”

“…The mean age in the group [1] was 34.5 ± 17.3 months, 37.1 ± 15.2 months in group [2], 36.06 ± 16.46 months in group [3]. Males made up 57% of the patients in group [1], 46% of the patients in group [2], and 42% of the patients in group [3]. Only [18%] of the febrile seizure patients have positive consanguinity history and 15 [30%] of Febrile cases have a positive family history.…”

“…Table 1 showed the demographic data for each group, including age, gender, consanguinity, and positive family history of febrile seizure. The mean age in the group [1] was 34.5 ± 17.3 months, 37.1 ± 15.2 months in group [2], 36.06 ± 16.46 months in group [3]. Males made up 57% of the patients in group [1], 46% of the patients in group [2], and 42% of the patients in group [3].…”

“…Group [2]: patients had a complex seizure 15 [30]. Group [3]: 50 matched children. All patients were subjected to the following: Full history taking which included personal history including [age and sex], detailed seizures history, first attack or recurrent, degree of fever, duration of the attack and description of fit including focal or generalized, degree of consciousness, post-ictal stupor and treatment of fit], Developmental history, and family history for similar condition or consanguinity.…”

“…The etiology and pathogenesis of febrile seizures remain unknown. The most significant risk factor for febrile seizure is a familial history, with a higher number of affected relatives correlating with an increased risk [3] . Individuals who are susceptible to febrile seizures may experience seizures as a result of a sudden increase in body temperature, commonly referred to as fever, during an infectious disease [4] .…”