PCDH19 gene-related<unk>  is clinically based on patient and family seizure history, cognitive and behavioral neuropsychological evaluation, neurological examination, electroencephalogram (EEG) studies, and long term observation. Diagnosis is confirmed using molecular testing for PCDH19 mutations. Diagnostic test The test is particularly indicated in children who have had cluster seizures in series. It is also recommended for patients who are diagnosed GEFS+ and when the seizures are associated with fever, infection, experienced regression, delayed cognitive growth or behavioral problems. The test is typically ordered by neurologists. The diagnostic test can be done by drawing blood or saliva of the patient and their immediate family. It is analyzed in laboratories that specialize in genetic testing. Genetic testing can aid in a firmer diagnosis and understanding of the disorder, may aid in identifying the optimal treatment plan and if positive, testing of the parents can determine if they are carriers. Classification Due to its recent discovery, PCDH19 gene-related<unk>  does not have a specific classification according to the International League Against<unk> . PCDH19 gene-related<unk>  is thought to develop based upon a deficiency of the calcium-dependent cell-adhesion PCDH19 (protocadherin 19) gene. Its cause and pathophysiology (cause and mechanisms by which damage occurs) are different from other<unk> es, although the symptoms are very similar to other epileptic syndromes, such as Generalized<unk>  with febrile seizures plus (GEFS+), Dravet syndrome with SCN1A negative, FIRES (febrile infection–related<unk>  syndrome) Lennox-Gastaut syndrome or<unk>  of unknown origin.
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Craniosynostosis–anal anomalies–porokeratosis syndrome
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