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Epileptic Disorders

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First reported case of an inherited PACS2 pathogenic variant with variable expression Volume 24, issue 3, June 2022

TEST YOURSELF

(1) What is the aetiology of neonatal epilepsies?

 

(2) What features are associated with PACS2 gene mutations?

 

(3) Are pathogenic variants of genes causing early-onset developmental epileptic encephalopathies always associated with a severe phenotype?

 

 

 

 

 

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Answers

(1) More than 50% of epilepsies beginning in the neonatal period have a genetic aetiology.

 

(2) Developmental and epileptic encephalopathy with mild dysmorphic facial features and cerebellar dysgenesis, with autosomal dominant inheritance.

 

(3) There are several examples of pathogenic variants of genes associated with a wide spectrum of phenotypes, from mild -age-related and self-remitting- epilepsies to severe drug-resistant disorders and syndromes with associated comorbidities, including autistic spectrum disorders and other neurodevelopmental disorders.

 

 

 

 

 

 

 

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