Genetics of epilepsy syndromes starting in the first year of life

This is the authors' abstract. We don't add key points for this paper.

Background: Incidence rates of epilepsy in children are highest during the first year of life. Most frequently, epilepsy results from a metabolic or structural defect in the brain. However, some infants have clearly delineated epilepsy syndromes for which no underlying etiology can be identified except for a genetic predisposition. Methods: We reviewed the current knowledge on the genetics of epilepsy syndromes starting in the first year of life. We focus on those epilepsy syndromes without a clear structural or metabolic etiology. Results: Recent molecular studies have led to the identification of the responsible gene defects for several of the monogenetic epilepsy syndromes with onset in the first year of life. Discussion: This knowledge has consequences for clinical practice as it opens new perspectives for genetic testing, improving early diagnosis, and facilitating genetic counseling. This overview of epilepsy syndromes and associated gene defects might serve as a basis for the selection of patients in whom genetic testing can be helpful. AD = autosomal dominant; AED = antiepileptic drug; AR = autosomal recessive; AS = absence seizures; BFIS = benign familial infantile seizures; BFNIS = benign familial neonatal-infantile seizures; BFNS = benign familial neonatal seizures; BMEI = benign myoclonic epilepsy of infancy; CAE = childhood absence epilepsy; DD = developmental delay; EFMR = epilepsy and mental retardation limited to females; EPI = epilepsy; FHM = familial hemiplegic migraine; FIME = familial infantile myoclonic epilepsy; FoS = focal seizures; FS = febrile seizures; GCS = generalized clonic seizures; GEFS+ = generalized epilepsy with febrile seizures plus; GTCS = generalized tonic-clonic seizures; ICCA = infantile convulsions and choreoathetosis; IS = infantile spasms; ISSX = X-linked infantile spasms; MR = mental retardation; MS = myoclonic seizures; PMR = psychomotor retardation; RTT = Rett syndrome; SB = suppression-burst; TLE = temporal lobe epilepsy; TS = tonic seizures; UCS = unilateral clonic seizures.