Variant: rs1555985372 

    present in Gene: PCDH19
    present in Chromosome: X
    Position on Chromosome: 100407591
    Alleles of this Variant: -/C

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.

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.