A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
J Hum Genet
; 63(6): 749-753, 2018 Jun.
Article
in En
| MEDLINE
| ID: mdl-29556033
ABSTRACT
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy. To understand phenotypic spectrum associated with PCDH12 variants, more reports are needed.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cadherins
/
Cerebral Palsy
/
Dyskinesias
/
Epilepsy
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2018
Document type:
Article
Affiliation country:
Japan
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
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UK
/
UNITED KINGDOM