Medication Antiepileptic drugs (AEDs) are used in most cases to control seizures, however, PCDH19 gene-related<unk>  is generally associated with early-onset development of drug resistant seizures. Existing data supports the use of “rational polypharmacy,” which consists of a step-wise addition of AEDs until a patient responds favorably or experiences intolerable adverse events. In general, as in other types of uncontrolled<unk> , the use of drugs with different mechanisms of action appears to be more effective than combining drugs with similar mechanisms of action. No currently marketed AEDs have been extensively studied in PCDH19 gene-related<unk>  and there is no established treatment strategy for girls diagnosed with PCDH19 gene-related<unk> . Patients may respond well to treatment with levetiracetam and in cases of drug resistance, stiripentol, which is not approved in the U.S. but is available through the FDA Expanded Access IND process. Seizures might be easier to control with age, especially after the second decade of life. However, some publications have shown that medication withdrawal is highly associated with seizure recurrence. Urgent care At the hospital, physicians follow standard protocol for managing seizures. Cluster seizures are generally controlled by benzodiazepines such as diazepam, midazolam, lorazepam or clonazepam. The use of oxygen is recommended in the United States, but in Europe it is only recommended in cases of prolonged epileptic status.
Epilepsy-intellectual disability in females
Schizophrenia and tobacco smoking
Supernumerary nipples–uropathies–Becker's nevus syndrome
Autism – Tics, AD/HD, and other Comorbidities
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome
Craniosynostosis–anal anomalies–porokeratosis syndrome
Blepharophimosis, ptosis, epicanthus inversus syndrome