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  • Updated 03.06.2024
  • Released 03.23.2023
  • Expires For CME 03.06.2027

Protocadherin19 clustering epilepsy



Protocadherin19 (PCDH19) clustering epilepsy is a female-predominant, X-linked epileptic encephalopathy. PCDH19-clustering epilepsy classically presents in infancy with intractable epilepsy characterized by focal seizures in clusters, with a high sensitivity to fevers. PCDH19 epilepsy is classified as an epileptic encephalopathy as there is also rapid development of cognitive and behavioral impairment along with intractable epilepsy, both thought to be due to the same underlying disease process. PCDH19 mutations are the second most prevalent monogenetic cause of epilepsy (05; 02; 09; 16), secondary only to SCN1A mutations (05).

Key points

• PCDH19 clustering epilepsy syndrome is a female-predominant, X-linked epileptic encephalopathy.

• Patients with PCDH19-clustering epilepsy classically present in infancy with intractable epilepsy characterized by focal seizures in clusters and sensitivity to fever and then exhibit rapid developmental impairment.

• This syndrome exhibits a unique inheritance pattern in which heterozygous females and mosaic males are symptomatic whereas homozygous females and hemizygous males are unaffected.

• Seizures become less severe as patients become teenagers and young adults; however, cognitive impairment and neuropsychiatric symptoms become the predominant phenotype.

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