Article

Identification of a pathogenic mutation in PCDH19-related female-limited epilepsy

2022-08-01

Abstract excerpt

<title>Abstract</title> <p>Background Early infantile epilepticencephalopathy-9 (EIEE9) is an X-linked genetic disorder characterized by the onset of seizures during infancy. Mutations in <italic>PCDH19</italic> are the main causes of EIEE9. The subject of our study is a child who presented with recurrent epileptic seizures and findings of abnormal synchronous discharges on electroencephalography. Our study aime...

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Literature Corpus work: 74fe9ae1-8ae7-5763-8156-f632720b5f80
DOI: 10.21203/rs.3.rs-1895761/v1

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