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Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare...
Click to read more »cell-adhesion proteins. The PCDH19 gene encoding the protein is located on the long arm of the X chromosome. Mutations of the PCDH19 gene cause epilepsy-intellectual...
Click to read more »gene, in GABRG2 and there is another gene related with calcium channel the PCDH19 which is also known as Epilepsy Female with Mental Retardation. Penetrance...
Click to read more »with Febrile Seizures Plus (GEFS+), but very few with Dravet syndrome. - PCDH19: This gene, located on the X chromosome, encodes protocadherin 19, a protein...
Click to read more »PCDH1 PCDH7 PCDH8 PCDH9 PCDH10 PCDH11X/11Y PCDH12 PCDH15 PCDH17 PCDH18 PCDH19 PCDH20 PCDHA1 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA10...
Click to read more »with mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1 and likely others. Less...
Click to read more »PCDH1 PCDH7 PCDH8 PCDH9 PCDH10 PCDH11X/11Y PCDH12 PCDH15 PCDH17 PCDH18 PCDH19 PCDH20 PCDHA1 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA10...
Click to read more »infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations". Developmental Medicine & Child...
Click to read more »PCDH10 Identifiers Aliases PCDH10, OL-PCDH, PCDH19, protocadherin 10 External IDs OMIM: 608286; MGI: 1338042; GeneCards: PCDH10 Gene location (Human) Chr...
Click to read more »Q96QU1 11788 PCDH17 HGNC:14267; O14917 11789 PCDH18 HGNC:14268; Q9HCL0 11790 PCDH19 HGNC:14270; Q8TAB3 11791 PCDH20 HGNC:14257; Q8N6Y1 11792 PCDHA@ HGNC:8662...
Click to read more »without intellectual disability. The condition is caused by mutations in PCDH19 (protocadherin 19).[citation needed] See Febrile infection-related epilepsy...
Click to read more »121200; KCNQ2 Epilepsy, female-restricted, with mental retardation; 300088; PCDH19 Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A...
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