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One of the most common genes linked with epilepsy syndromesis Protocadherin 19 (PCDH19). PCDH19 is one of the six genes most associated in genetic epilepsies, according to the literature.
PCDH19 is a gene that regulates neural connections and signal transduction and is found on chromosome Xq22.1. Epilepsy and Mental Retardation Limited to Female (EFMR) is the most
common clinical manifestation of PCDH19 mutation, characterised by epileptic and non-epileptic symptoms affecting primarily females. The clinical spectrum of these mutations, however, varies
greatly, ranging from hereditary epilepsy with febrile seizures to epileptic encephalopathies. The unusual female- only participation appears to be due to cellular interference in heterozygosity, however impacted mosaic-males have also been documented. Generalized tonic-clonic, tonic, atonic, absences, and myoclonic jerks are all forms of seizures. Drug resistance and the
lack of specific therapy indications restrict the treatment of PCDH19-related epilepsy. Seizures, on the other hand, grow less severe as adolescence progresses, and some individuals may even go seizure-free. Adult individuals with PCDH19 mutations have the most difficulties with non-epileptic symptoms. The goal of this study is to look at the very diverse phenotypic manifestation of the
PCDH19 gene mutation, which has been linked to epilepsy.
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