PMID- 21269290
OWN - NLM
STAT- MEDLINE
DCOM- 20110509
LR  - 20211020
IS  - 1528-1167 (Electronic)
IS  - 0013-9580 (Print)
IS  - 0013-9580 (Linking)
VI  - 52
IP  - 3
DP  - 2011 Mar
TI  - Epilepsy and the new cytogenetics.
PG  - 423-32
LID - 10.1111/j.1528-1167.2010.02932.x [doi]
AB  - We set out to review the extent to which molecular karyotyping has overtaken 
      conventional cytogenetics in applications related to epilepsy. Multiplex 
      ligase-dependent probe amplification (MLPA) targeted to predetermined regions 
      such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, 
      and oligonucleotide array comparative genome hybridization (array CGH) is now 
      well established for genome-wide exploration of microchromosomal variation. Array 
      CGH is applicable to the characterization of lesions present in both sporadic and 
      familial epilepsy, especially where clinical features of affected cases depart 
      from established syndromes. Copy number variants (CNVs) associated with epilepsy 
      and a range of other syndromes and conditions can be recurrent due to nonallelic 
      homologous recombination in regions of segmental duplication. The most common of 
      the recurrent microdeletions associated with generalized epilepsy are typically 
      seen at a frequency of  approximately  1% at 15q13.3, 16p13.11, and 15q11.2, sites that also 
      confer susceptibility for intellectual disability, autism, and schizophrenia. 
      Incomplete penetrance and variable expressivity confound the established rules of 
      cytogenetics for determining the pathogenicity for novel CNVs; however, as 
      knowledge is gained for each of the recurrent CNVs, this is translated to genetic 
      counseling. CNVs play a significant role in the susceptibility profile for 
      epilepsies, with complex genetics and their comorbidities both from the 
      "hotspots" defined by segmental duplication and elsewhere in the genome where 
      their location and size are often novel.
CI  - Wiley Periodicals, Inc. (c) 2011 International League Against Epilepsy.
FAU - Mulley, John C
AU  - Mulley JC
AD  - Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, 
      SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, 
      Australia. john.mulley@health.sa.gov.au
FAU - Mefford, Heather C
AU  - Mefford HC
LA  - eng
GR  - R01 NS069605/NS/NINDS NIH HHS/United States
GR  - R01 NS069605-01/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20110126
PL  - United States
TA  - Epilepsia
JT  - Epilepsia
JID - 2983306R
RN  - 0 (KCNQ2 Potassium Channel)
RN  - 0 (KCNQ2 protein, human)
RN  - 0 (NAV1.1 Voltage-Gated Sodium Channel)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Receptors, Nicotinic)
RN  - 0 (SCN1A protein, human)
RN  - 0 (Sodium Channels)
RN  - 0 (nicotinic acetylcholine receptor alpha4 subunit)
SB  - IM
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Duplication
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Chromosomes, Human, Pair 16/genetics
MH  - Comorbidity
MH  - Comparative Genomic Hybridization
MH  - *Cytogenetic Analysis
MH  - DNA Copy Number Variations/genetics
MH  - Epilepsy/*genetics
MH  - Exons/genetics
MH  - Gene Frequency/genetics
MH  - Genetic Counseling
MH  - Genetic Predisposition to Disease/genetics
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - KCNQ2 Potassium Channel/genetics
MH  - *Karyotyping
MH  - NAV1.1 Voltage-Gated Sodium Channel
MH  - Nerve Tissue Proteins/genetics
MH  - Phenotype
MH  - Receptors, Nicotinic/genetics
MH  - Sodium Channels/genetics
MH  - Syndrome
PMC - PMC3079368
MID - NIHMS252252
COIS- Disclosure: Neither author has a conflict of interest to disclose. We confirm 
      that we have read the Journal's position on issues involved in ethical 
      publication and affirm that this report is consistent with those guidelines.
EDAT- 2011/01/29 06:00
MHDA- 2011/05/10 06:00
PMCR- 2012/03/01
CRDT- 2011/01/29 06:00
PHST- 2011/01/29 06:00 [entrez]
PHST- 2011/01/29 06:00 [pubmed]
PHST- 2011/05/10 06:00 [medline]
PHST- 2012/03/01 00:00 [pmc-release]
AID - 10.1111/j.1528-1167.2010.02932.x [doi]
PST - ppublish
SO  - Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 
      2011 Jan 26.