PCDH19

Publications

Juberg RC et al. A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr. 1971;79:726–32.  PMID: 5116697.

Ryan SG et al. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet. 1997;17:92–95.  PMID: 9288105.

Scheffer IE et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 2008;131:918–27.  PMID: 18234694.

Dibbens LM et al. X-linked protocadherin 19 pathogenic variants cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008;40:776–81.  PMID: 18469813.

Depienne C et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5(2):e1000381.  PMID: 19214208.

Hynes K et al. Epilepsy and mental retardation limited to females with PCDH19 pathogenic variants can present de novo or in single generation families. J Med Genet. 2010;47(3):211–216.  PMID: 19752159.

Dibbens LM et al. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 pathogenic variants. Neurology. 2011;76(17):1514–1519.  PMID: 21519002.

Marini C et al. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia. 2012;53(12):2111–2119.  PMID: 22946748.

Pederick DT et al. Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy. Neuron. 2018;97:59–66 e55.  PMID: 29301106.

Kolc KL et al. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol Psych. 2018;1.  PMID: 29892053.

Trivisano M et al. Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study. Epilepsia. 2018:59 2260-2271.  PMID: 30451291.