The pathogenesis of epilepsy related to primary inherited neurotransmitter disorders and advance in its diagnosis and treatment / 中华实用儿科临床杂志

ABSTRACT

Inherited neurotransmitter disorders are a group of rare nervous system diseases frequently diagnosed in children.The disorders are caused by biosynthesis, breakdown or transport detects of neurotransmitters or cofactors essential in their biosynthesis.They can be classified as primary and secondary disorders.The clinical phenotypes of primary inherited neurotransmitter disorders include developmental delay, dyskinesia, schizophrenia, and epilepsy.Among them, epilepsy is the main clinical phenotype.Gamma-aminobutyric acid, glutamate, acetylcholine, biogenic amine and other neurotransmitters are involved in the epileptogenesis.The epilepsy related to primary inherited neurotransmitter disorders has diverse phenotypes, from mild seizures to severe early onset epileptic encephalopathy.An inherited neurotransmitter disorder should be suspected in children with epilepsy if the following features are present (1) early onset epileptic encephalopathies associated with developmental impairment, autonomic dysfunctions or movement disorders; (2) frequent occurrence of such peculiar electroencephalogram patterns as burst suppression, hypsarrhythmia, and diffused/focal/multifocal electroencephalogram abnormalities; (3) neuroradiological signs of metabolic intoxication; (4) detection of specific cerebrospinal fluid biomarkers.Early identification, diagnosis and treatment is of great significance in reducing the incidence, lowering the mortality rate, and improving the prognosis of patients with epilepsy related to primary inherited neurotransmitter disorders.