title: Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.
abstract: Benign neonatal sleep myoclonus is an uncommon, nonepileptic disorder characterized by myoclonic jerks appearing in the neonatal period that occur predominantly during sleep. Although self-limiting, the disorder is frequently confused with epileptic neonatal seizures. A few familial cases have been reported; however the genetics has not been studied. We ascertained 3 families with 2 or more affected individuals and analyzed the pedigrees. We used microsatellite markers to determine if the disorder was possibly linked to KCNQ2 or KCNQ3, the 2 genes that cause most cases of benign familial neonatal seizures, a disorder that it could be easily confused with. The 3 pedigrees, including one with 4 affected individuals, were suggestive of autosomal dominant inheritance. The loci for KCNQ2 and KCNQ3 were excluded in the 2 larger families. We conclude that benign neonatal sleep myoclonus can show autosomal dominant inheritance and is not allelic with benign familial neonatal seizures.
authors.affiliation: Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel.
authors.forename: Zaid
authors.initials: Z
authors.lastname: Afawi
authors.forename: Haim
authors.initials: H
authors.lastname: Bassan
authors.forename: Sarah
authors.initials: S
authors.lastname: Heron
authors.forename: Karen
authors.initials: K
authors.lastname: Oliver
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.forename: Ingrid
authors.initials: I
authors.lastname: Scheffer
authors.forename: Richard
authors.initials: R
authors.lastname: Leventer
authors.forename: Amos
authors.initials: A
authors.lastname: Korczyn
authors.forename: Samuel
authors.initials: S
authors.lastname: Berkovic
mesh_terms: D001315:Australia; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007557:Israel; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D051659:KCNQ3 Potassium Channel / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D020447:Parasomnias / Q000235:genetics*; D055815:Young Adult
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel