PCDH19 related epileptic encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

PCDH19 related epileptic encephalopathy. This is caused by mutations in the PCDH19 (protocadherin 19) gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PCDH19 (protocadherin 19) gene
  • The transmission is X-linked
  • It often arises de-novo
  • It typically manifests in female heterozygotes
  • Hemizygous males are spared
  • The mean onset age is 14 months: range 6-36 months

Epilepsy features

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Other features

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Differential diagnosis: Dravet syndrome

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Electroencephalogram (EEG)

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Magnetic resonance imaging (MRI) brain

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Most effective treatments

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Other treatments

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Synonym

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References

  1. Depienne C, LeGuern E. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Hum Mutat 2012; 33:627-634.
  2. Hynes K, Tarpey P, Dibbens LM, et al. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 2010; 47:211-216.
  3. Trivisano M, Pietrafusa N, Terracciano A, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: a multicenter study. Epilepsia 2018; 59:2260-2271. 
  4. Lyons S, Marnane M, Reavey E, Williams N, Costello D. PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females. Pract Neurol 2017; 17:314-317.
  5. Scheffer IE, Turner SJ, Dibbens LM, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 2008; 131:918-927. 
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