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Protocadherin 19

PCDH19, EFMR, protocadherin 19
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. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: Protocadherin, AGE, HAD, Protocadherins, PCDH17
Papers on PCDH19
PCDH19-related epilepsy in two mosaic male patients.
Specchio et al., Roma, Italy. In Epilepsia, Feb 2016
UNASSIGNED: PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures.
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.
Terracciano et al., Roma, Italy. In Oncotarget, Oct 2015
PCDH19 (Protocadherin 19), a member of the cadherin superfamily, is involved in the pathogenic mechanism of an X-linked model of neurological disease.
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Gecz et al., Adelaide, Australia. In Hum Mol Genet, Oct 2015
Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM300088) is an infantile onset epilepsy syndrome with or without intellectual disability (ID) and autism.
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Erçal et al., İzmir, Turkey. In J Child Neurol, Sep 2015
To date, approximately 265 genes have been defined in epilepsy and several genes including STXBP1, ARX, SLC25A22, KCNQ2, CDKL5, SCN1A, and PCDH19 have been found to be associated with early-onset epileptic encephalopathies.
[A patient with an early diagnosis of PCDH19-related epilepsy].
Hirose et al., In No To Hattatsu, Jul 2015
An abnormality in PCDH19 causes intractable early-onset epilepsy limited to females, and its significance in pediatric epilepsy is currently increasing.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Snead et al., Toronto, Canada. In Epilepsia, May 2015
RESULTS: Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes.
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
Hirose et al., Tokyo, Japan. In Seizure, Apr 2015
PURPOSE: The pathomechanism and treatment of PCDH19 female epilepsy (PCDH19-FE) remain unclear.
Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy.
Vigevano et al., Roma, Italy. In Eur J Paediatr Neurol, Mar 2015
PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases.
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Hoffman-Zacharska et al., Warsaw, Poland. In J Appl Genet, Feb 2015
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.
Detection of Selection Signatures on the X Chromosome in Three Sheep Breeds.
Du et al., Beijing, China. In Int J Mol Sci, 2014
We also identified some selection regions harboring genes that had human orthologs, including BKT, CENPI, GUCY2F, MSN, PCDH11X, PLP1, VSIG4, PAK3, WAS, PCDH19, PDHA1, and SRPX2.
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
Wong et al., Hong Kong, Hong Kong. In Plos One, 2014
We performed genetic analysis on a panel of 7 genes (ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1) and identified 10 point mutations [ARX (1), CDKL5 (3), KCNQ2 (2), PCDH19 (1), SCN1A (1), STXBP1 (2)] as well as one microdeletion involving both SCN1A and SCN2A.
Genetic testing of epileptic encephalopathies of infancy: an approach.
Prasad et al., New Delhi, India. In Can J Neurol Sci, 2013
The recently described genes include; Cyclin-Dependent Kinase-Like 5 gene (CDKL5), Protocadherin 19 (PCDH19), Sodium channel neuronal type 1a subunit gene (SCN1A), Aristaless-Related Homeobox Gene (ARX), and Syntaxin binding protein 1 gene (STXBP1), amongst others.
Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.
Mateos et al., Madrid, Spain. In Epilepsy Behav, 2012
This study presented that PCDH19 mutation cause of genetic epilepsy in females.
PCDH19 mutation in Japanese females with epilepsy.
Hirose et al., Fukuoka, Japan. In Epilepsy Res, 2012
PCDH19 mutation is a relatively frequent cause of epilepsy in Japanese females.
A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion.
Jontes et al., Columbus, United States. In J Cell Biol, 2012
demonstration of a novel mechanism of cell adhesion, mediated by a complex of Protocadherin-19 (Pcdh19) and N-cadherin (Ncad)
Dravet syndrome: a genetic epileptic disorder.
Ohtsuka et al., Okayama, Japan. In Acta Med Okayama, 2011
Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS.
Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.
Vigevano et al., Roma, Italy. In Epilepsia, 2011
case report of missense heterozygous c.1129G>C (p.Asp377His) mutation and acute-onset epilepsy triggered by fever
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
Scheffer et al., Adelaide, Australia. In Neurology, 2011
findings show that gonadal mosaicism of a PCDH19 mutation in a parent is an important molecular mechanism associated with the inheritance of epilepsy and mental retardation in females
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Gécz et al., Adelaide, Australia. In Nat Genet, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
Smietana et al., Philadelphia, United States. In Nat Genet, 1997
We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males.
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