Search Results: PCDH19

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Epilepsy-intellectual disability in females
Minggu, 2026-07-26 12:20:49

Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare...

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Protocadherin 19
Kamis, 2025-10-02 22:21:06

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...

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Generalized epilepsy with febrile seizures plus
Kamis, 2026-01-22 15:33:20

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...

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Dravet syndrome
Selasa, 2026-08-11 17:52:57

with Febrile Seizures Plus (GEFS+), but very few with Dravet syndrome. - PCDH19: This gene, located on the X chromosome, encodes protocadherin 19, a protein...

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Cadherin
Rabu, 2026-08-12 21:19:45

PCDH1 PCDH7 PCDH8 PCDH9 PCDH10 PCDH11X/11Y PCDH12 PCDH15 PCDH17 PCDH18 PCDH19 PCDH20 PCDHA1 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA10...

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Ohtahara syndrome
Sabtu, 2025-11-01 22:18:46

with mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1 and likely others. Less...

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Protocadherin
Rabu, 2024-03-27 17:02:43

PCDH1 PCDH7 PCDH8 PCDH9 PCDH10 PCDH11X/11Y PCDH12 PCDH15 PCDH17 PCDH18 PCDH19 PCDH20 PCDHA1 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA10...

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Febrile infection-related epilepsy syndrome
Selasa, 2026-02-03 01:51:51

infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations". Developmental Medicine & Child...

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PCDH10
Rabu, 2025-07-16 05:07:45

PCDH10 Identifiers Aliases PCDH10, OL-PCDH, PCDH19, protocadherin 10 External IDs OMIM: 608286; MGI: 1338042; GeneCards: PCDH10 Gene location (Human) Chr...

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List of human protein-coding genes 6
Senin, 2025-11-03 07:57:22

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...

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Epilepsy syndromes
Minggu, 2026-07-26 12:18:22

without intellectual disability. The condition is caused by mutations in PCDH19 (protocadherin 19).[citation needed] See Febrile infection-related epilepsy...

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List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31

121200; KCNQ2 Epilepsy, female-restricted, with mental retardation; 300088; PCDH19 Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A...

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