PMID- 22050443
OWN - NLM
STAT- MEDLINE
DCOM- 20120125
LR  - 20111205
IS  - 1528-1167 (Electronic)
IS  - 0013-9580 (Linking)
VI  - 52
IP  - 12
DP  - 2011 Dec
TI  - A balanced translocation disrupts SYNGAP1 in a patient with intellectual 
      disability, speech impairment, and epilepsy with myoclonic absences (EMA).
PG  - e190-3
LID - 10.1111/j.1528-1167.2011.03304.x [doi]
AB  - Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy 
      occurring in childhood and is often difficult to treat. The underlying etiology 
      of EMA is unknown in the majority of patients. Herein, we describe a patient with 
      EMA and intellectual disability who carries a de novo balanced translocation: 
      t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence 
      in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate 
      the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint 
      at 22q11.21 was within a highly variable region without known protein-coding 
      genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual 
      disability (NSID). Two-thirds of the patients described so far also have 
      generalized epilepsy. This finding, together with our report, suggests that 
      dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, 
      including EMA.
CI  - Wiley Periodicals, Inc. (c) 2011 International League Against Epilepsy.
FAU - Klitten, Laura L
AU  - Klitten LL
AD  - Danish Epilepsy Center, Dianalund, Denmark. klitten@sund.ku.dk
FAU - Moller, Rikke S
AU  - Moller RS
FAU - Nikanorova, Marina
AU  - Nikanorova M
FAU - Silahtaroglu, Asli
AU  - Silahtaroglu A
FAU - Hjalgrim, Helle
AU  - Hjalgrim H
FAU - Tommerup, Niels
AU  - Tommerup N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20111102
PL  - United States
TA  - Epilepsia
JT  - Epilepsia
JID - 2983306R
RN  - 0 (G-Bond)
RN  - 0 (Methacrylates)
RN  - 0 (SYNGAP1 protein, human)
RN  - 0 (ras GTPase-Activating Proteins)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 22
MH  - Chromosomes, Human, Pair 6
MH  - Cytogenetics
MH  - Epilepsies, Myoclonic/complications/*genetics
MH  - Humans
MH  - Intellectual Disability/complications/*genetics
MH  - Male
MH  - Methacrylates
MH  - *Mutation
MH  - Speech Disorders/complications/*genetics
MH  - Translocation, Genetic/*genetics
MH  - ras GTPase-Activating Proteins/*genetics
EDAT- 2011/11/05 06:00
MHDA- 2012/01/26 06:00
CRDT- 2011/11/05 06:00
PHST- 2011/11/05 06:00 [entrez]
PHST- 2011/11/05 06:00 [pubmed]
PHST- 2012/01/26 06:00 [medline]
AID - 10.1111/j.1528-1167.2011.03304.x [doi]
PST - ppublish
SO  - Epilepsia. 2011 Dec;52(12):e190-3. doi: 10.1111/j.1528-1167.2011.03304.x. Epub 
      2011 Nov 2.