Property Summary

NCBI Gene PubMed Count 41
Grant Count 5
Funding $182,145.25
PubMed Score 44.62
PubTator Score 59.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.200 0.028
ependymoma -1.500 0.029
medulloblastoma -2.600 0.001
atypical teratoid / rhabdoid tumor -2.100 0.004
glioblastoma -1.500 0.034
medulloblastoma, large-cell -2.300 0.030
non-small cell lung cancer 1.481 0.000
invasive ductal carcinoma -1.300 0.000
ductal carcinoma in situ -1.200 0.000
ovarian cancer 1.700 0.000

Gene RIF (34)

PMID Text
26765483 Two mosaic PCDH19 point mutations are described in male patients with PCDH19-related epilepsy.
26450854 PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain
26123493 steroids and in particular neurosteroids (e.g. allopregnanolone) play an important role in PCDH19-FE and represent a realistic therapeutic target.
25891919 This study proposes corticosteroid treatment as an efficacious adjunctive treatment for the acute symptoms of PCDH19-Generalized Convulsive Epilepsy and suggests BBB involvement in this disease.
25818041 Epileptic encephalopathy related to mutations in the PCDH19 genes.
25510386 This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol
25499160 girls with a de novo mutation in PCDH19 presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages
25227595 analysis of four novel mutations in the PCDH19 gene found in isolated cases of girls with infantile onset epilepsy
25218114 The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation.
25204757 PCDH19-related epilepsy could be considered a well-defined epileptic syndrome, affecting only females, included in the group of epilepsies with febrile and afebrile seizures [review]
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AA Sequence

MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPH      1 - 70
LVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISE     71 - 140
AASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITA    141 - 210
LDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGY    211 - 280
VNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLS    281 - 350
VNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN    351 - 420
LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSY    421 - 490
QIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNT    491 - 560
PVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTF    561 - 630
GESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVA    631 - 700
IKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYG    701 - 770
HQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT    771 - 840
RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHE    841 - 910
ESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIR    911 - 980
SKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNS    981 - 1050
VIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEK   1051 - 1120
VMHEVSPILKEGRNKESPGVKRLKDIVL                                             1121 - 1148
//

Text Mined References (43)

PMID Year Title
26765483 2016 PCDH19-related epilepsy in two mosaic male patients.
26450854 2015 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.
26123493 2015 Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
25891919 2015 Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25510386 2015 Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy.
25499160 2015 Cognitive development in females with PCDH19 gene-related epilepsy.
25227595 2014 Identification of four novel PCDH19 Mutations and prediction of their functional impact.
25218114 2015 PCDH19 mutations in female patients from Southern Italy.
25204757 2015 Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
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