Gene: PCDH19

Alternate names for this Gene: EFMR|EIEE9

Gene Summary: The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: protocadherin 19

Type of Gene: protein-coding

rs1555985372 in PCDH19 gene and Dysmorphic features PMID 19752159 2010 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

PMID 18234694 2008 Epilepsy and mental retardation limited to females: an under-recognized disorder.

PMID 21053371 2011 Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PMID 21480887 2011 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

PMID 21463275 2011 The genetics of Dravet syndrome.

PMID 21519002 2011 Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

PMID 18469813 2008 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.

PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

PMID 19214208 2009 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PMID 27016041 2016 PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

PMID 22267240 2012 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PMID 26765483 2016 PCDH19-related epilepsy in two mosaic male patients.

PMID 28669061 2017 Male patients affected by mosaic PCDH19 mutations: five new cases.

PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.

PMID 28462982 2017 Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

rs1131691646 in PCDH19 gene and EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.

PMID 21053371 2011 Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 19752159 2010 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

PMID 22267240 2012 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PMID 21480887 2011 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

PMID 19214208 2009 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PMID 21519002 2011 Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

PMID 20830798 2010 Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 18469813 2008 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

PMID 26765483 2016 PCDH19-related epilepsy in two mosaic male patients.

PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

PMID 27527380 2017 The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

PMID 27143072 2016 [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].

PMID 23334464 2013 Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

PMID 22848613 2012 Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

PMID 2267240 1990 Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation.

rs191333060 in PCDH19 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs1555985372 in PCDH19 gene and Muscle hypotonia PMID 26765483 2016 PCDH19-related epilepsy in two mosaic male patients.

PMID 28669061 2017 Male patients affected by mosaic PCDH19 mutations: five new cases.

PMID 18469813 2008 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

PMID 21519002 2011 Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.

PMID 28462982 2017 Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

PMID 19752159 2010 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

PMID 21480887 2011 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

PMID 22267240 2012 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PMID 18234694 2008 Epilepsy and mental retardation limited to females: an under-recognized disorder.

PMID 21053371 2011 Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.

PMID 27016041 2016 PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

PMID 19214208 2009 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PMID 21463275 2011 The genetics of Dravet syndrome.

PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.