MicroRNAs (miRNAs) are short, noncoding RNAs that function as posttranscriptional regulators of gene expression by controlling the translation of messenger RNAs. Epilepsy is a chronic and debilitating brain disorder and occurs frequently in childhood. The brain expresses several unique miRNAs which are associated with epileptogenesis. As a new layer of gene expression in the pathogenesis of epilepsy, miRNAs have shed a new light on the potential to transform an understanding of the underlying mechanisms promising novel therapeutic targets and effective antiepileptogenic medications. This article reviews the roles and mechanisms of miRNAs in the pathogenesis of seizure-damage and pathophysiology of epileptogenesis.
Epilepsy ; etiology ; Humans ; MicroRNAs ; physiology

Death, Sudden ; etiology ; Epilepsy ; complications ; mortality ; Humans

Post traumatic epilepsy （PTE） is a serious complication of traumatic brain injury and a difficult problem in forensic justice practice. In recent years, many biomarkers have been applied to the diagnosis, treatment and prognosis of injuries and diseases. There have been many studies on the biomarkers of PTE in the field of epilepsy. This paper reviews the progress in research on biomarkers of PTE in recent years in order to provide reference for the forensic identification of PTE.
Biomarkers/analysis* ; Brain Injuries, Traumatic/diagnosis* ; Epilepsy/etiology* ; Epilepsy, Post-Traumatic/etiology* ; Humans

Alzheimer Disease ; etiology ; Brain Ischemia ; etiology ; Epilepsy ; etiology ; Histamine ; physiology ; Humans ; Parkinson Disease ; etiology

Epilepsy ; etiology ; Female ; Humans ; Infant ; Tuberous Sclerosis ; complications ; diagnosis ; genetics

Child ; Diabetes Mellitus, Type 1 ; complications ; Epilepsy ; etiology ; Humans ; Male

Epilepsy ; etiology ; Humans ; Infant ; Male ; Nephrotic Syndrome ; complications ; congenital

Cerebral Palsy ; complications ; Child ; Child, Preschool ; Epilepsy ; etiology ; Humans

The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.
Aldehyde Dehydrogenase ; genetics ; Child, Preschool ; Epilepsy ; complications ; Female ; Humans ; Mutation ; Psychomotor Disorders ; etiology ; Seizures ; etiology

This study reports a boy with psychomotor retardation and epilepsy due to maternal phenylketonuria (PKU). The boy was admitted at the age of 20 months because of psychomotor retardation and epilepsy. He had seizures from the age of 1 year. His development quotient was 43. He presented with microcephaly, normal skin and hair color. Brain MRI scan showed mild cerebral white matter demyelination, broadening bilateral lateral ventricle and foramen magnum stricture. Chromosome karyotype, urine organic acids, blood amino acids and acylcarnitines were normal. His mother had mental retardation from her childhood. She presented with learning difficulties and yellow hair. Her premarriage health examinations were normal. She married a healthy man at age of 26 years. When she visited us at 28 years old, PKU was found by markedly elevated blood phenylalanine (916.54 μmol/L vs normal range 20-120 μmol/L). On her phenylalanine hydroxylase (PAH) gene, a homozygous mutations c.611A>G (p.Y204C) was identified, which confirmed the diagnosis of PAH-deficient PKU. Her child carries a heterozygous mutation c.611A>G with normal blood phenylalanine. Her husband had no any mutation on PAH. It is concluded that family investigation is very important for the etiological diagnosis of the children with mental retardation and epilepsy. Carefully clinical and metabolic survey should be performed for the parents with mental problems to identify parental diseases-associated child brain damage, such as maternal PKU.
Adult ; Epilepsy ; etiology ; Female ; Humans ; Infant ; Intellectual Disability ; etiology ; Male ; Phenylalanine Hydroxylase ; genetics ; Phenylketonuria, Maternal ; Pregnancy