PMID- 25204757
OWN - NLM
STAT- MEDLINE
DCOM- 20150601
LR  - 20220331
IS  - 2190-3883 (Electronic)
IS  - 1234-1983 (Linking)
VI  - 56
IP  - 1
DP  - 2015 Feb
TI  - Epilepsy and mental retardation restricted to females: X-linked epileptic 
      infantile encephalopathy of unusual inheritance.
PG  - 49-56
LID - 10.1007/s13353-014-0243-8 [doi]
AB  - Epilepsy in females with mental retardation (EFMR) is a rare early infantile 
      epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). 
      It is characterised by a variable degree of intellectual deficits and epilepsy. 
      EFMR is caused by heterozygous mutations in the PCDH19 gene (locus Xq22.1) 
      encoding protocadherin-19, a protein that is highly expressed during brain 
      development. The protein is involved in cell adhesion and probably plays an 
      important role in neuronal migration and formation of synaptic connections. EFMR 
      is considered X-linked of variable mutations' penetrance. Mutations in the PCDH19 
      gene mainly arise de novo, but if inherited, they show a unique pattern of 
      transmission. Females with heterozygous mutations are affected, while hemizygous 
      males are not, regardless of mutation carriage. This singular mode might be 
      explained by cell interference as a pathogenic molecular mechanism leading to 
      neuronal dysfunction. Recently, PCDH19-related EIEE turned out to be more 
      frequent than initially thought, contributing to around 16% of cases (25% in 
      female groups) in the SCN1A-negative DS-like patients. Therefore, the PCDH19 gene 
      is now estimated to be the second, after SCN1A, most clinically relevant gene in 
      epilepsy.
FAU - Duszyc, Kinga
AU  - Duszyc K
AD  - Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Terczynska, Iwona
AU  - Terczynska I
FAU - Hoffman-Zacharska, Dorota
AU  - Hoffman-Zacharska D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140910
PL  - England
TA  - J Appl Genet
JT  - Journal of applied genetics
JID - 9514582
RN  - 0 (Cadherins)
RN  - 0 (PCDH19 protein, human)
RN  - 0 (Protocadherins)
RN  - Infantile Epileptic-Dyskinetic Encephalopathy
SB  - IM
MH  - Aicardi Syndrome/*genetics
MH  - Cadherins/genetics
MH  - Epilepsy/*genetics
MH  - Female
MH  - Humans
MH  - *Inheritance Patterns
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Pedigree
MH  - Protocadherins
MH  - Spasms, Infantile/*genetics
EDAT- 2014/09/11 06:00
MHDA- 2015/06/02 06:00
CRDT- 2014/09/11 06:00
PHST- 2014/07/13 00:00 [received]
PHST- 2014/08/14 00:00 [accepted]
PHST- 2014/08/12 00:00 [revised]
PHST- 2014/09/11 06:00 [entrez]
PHST- 2014/09/11 06:00 [pubmed]
PHST- 2015/06/02 06:00 [medline]
AID - 10.1007/s13353-014-0243-8 [doi]
PST - ppublish
SO  - J Appl Genet. 2015 Feb;56(1):49-56. doi: 10.1007/s13353-014-0243-8. Epub 2014 Sep 
      10.