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This Article Figures Only Full Text Full Text (PDF) CME: Take the course for this article: Volume 72, Number 3, January 20, 2009 Polish Translation Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Deprez, L. Articles by De Jonghe, P. Search for Related Content PubMed PubMed Citation Articles by Deprez, L. Articles by De Jonghe, P. Related Collections All Pediatric All Epilepsy/Seizures Neonatal seizures Infantile spasms All Genetics

Genetics of epilepsy syndromes starting in the first year of life

From the Neurogenetics Group (L.D., P.D.J.), Department of Molecular Genetics, VIB, Antwerpen; Laboratory of Neurogenetics (L.D., P.D.J.), Institute Born-Bunge, Antwerpen; University of Antwerp (L.D., P.D.J.), Antwerpen; Department of Pediatric Neurology (A.J.), Universitair Ziekenhuis Brussel; and Division of Neurology (P.D.J.), University Hospital of Antwerp, Antwerpen, Belgium.

Address correspondence and reprint requests to Prof. Dr. P. De Jonghe, VIB-Department of Molecular Genetics, Neurogenetics Research Group, University of Antwerp-CDE, Universiteitsplein 1, BE-2610 Antwerpen, Belgium peter.dejonghe{at}ua.ac.be

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.

Supported by the Fund for Scientific Research Flanders (FWO), University of Antwerp and the Interuniversity Attraction Poles (IUAP) program P6/43 of the Belgian Science Policy Office (BELSPO). L.D. is a PhD fellow of the Institute for Science and Technology (IWT), Belgium.

Disclosure: The authors report no disclosures.

Received May 20, 2008. Accepted in final form October 6, 2008.