@article{98a31ca423b5466ba7738915c893f143,
title = "Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A",
abstract = "In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements.",
keywords = "Adolescent, Adult, Brain/pathology, Child, Child, Preschool, Chromosome Breakage, Chromosome Deletion, Chromosomes, Human, Pair 2/genetics, Chromosomes, Human, Pair 5/genetics, Disease Progression, Epilepsies, Myoclonic/diagnosis, Follow-Up Studies, Humans, Infant, Intellectual Disability/genetics, Karyotyping, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins/genetics, Phenotype, Point Mutation, Sodium Channels/genetics, Spasms, Infantile/diagnosis, Status Epilepticus/diagnosis, Translocation, Genetic/genetics",
author = "M{\o}ller, {Rikke S} and Schneider, {Lizette M} and Hansen, {Christian P} and Merete Bugge and Reinhard Ullmann and Niels Tommerup and Zeynep T{\"u}mer",
year = "2008",
month = jun,
doi = "10.1111/j.1528-1167.2008.01550.x",
language = "English",
volume = "49",
pages = "1091--4",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell Publishing, Inc",
number = "6",
}