| H01775 | |
| H number | H01775 |
| Name | PCDH19-related epilepsy syndrome; Early infantile epileptic encephalopathy 9; Epilepsy with mental retardation limited to females |
| Description | PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively in females. This disorder, first reported as epilepsy and mental retardation limited to females (EMFR) and recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males, suggesting an unusual X-linked inheritance with selective involvement of females. Mutations in the X-chromosome-encoded protocadherin 19 (PCDH19) cause this disorder, and are confirmatory for the diagnosis. |
| Category | Nervous system disease |
| Network | - |
| Gene | PCDH19 [HSA:57526] [KO:K16499] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00606 Ohtahara syndrome. |
| Other DBs | ICD-11: 8A61.1Y ICD-10: G40.3 MeSH: C564715 OMIM: 300088 |
| Reference | PMID:22949144 AUTHORS Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E TITLE Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. JOURNAL Neurogenetics 13:341-5 (2012) DOI:10.1007/s10048-012-0342-9 PMID:22267240 AUTHORS Depienne C, LeGuern E TITLE PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. JOURNAL Hum Mutat 33:627-34 (2012) DOI:10.1002/humu.22029 |