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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Updated: Nov 16, 2025

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CASK related disorder: Epilepsy and developmental outcome.

Thea Giacomini1, Sara Nuovo2, Ginevra Zanni3

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Child Neuropsychiatry, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|February 28, 2021
PubMed
Summary

Epilepsy is common in individuals with CASK pathogenic variants, often presenting as spasms and frequently becoming drug-resistant. Developmental delay severity is not significantly impacted by epilepsy in these patients.

Keywords:
CASK pathogenic VariantsDevelopmental delayEpilepsyLate-onset spasmsSpindles abnormalities

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • CASK pathogenic variants cause diverse neurological symptoms including intellectual disability, optic atrophy, and brainstem/cerebellar hypoplasia.
  • Epilepsy is a known complication, but detailed electroclinical features and their relation to developmental delay are not well-characterized.

Purpose of the Study:

  • To investigate the electroclinical features of epilepsy in patients with CASK pathogenic variants.
  • To explore the relationship between epilepsy and the degree of developmental delay in this cohort.

Main Methods:

  • A national multicenter cohort study of genetically confirmed CASK pathogenic variant patients.
  • Comparison of findings with existing literature cohorts.

Main Results:

  • 34 patients (29 female) with moderate to profound developmental delay, pontine/cerebellar hypoplasia, and microcephaly were analyzed.
  • Epilepsy occurred in 50% of patients, with spasms (32.3%) being common; 47.1% of epilepsy cases began after 24 months.
  • Drug resistance was high (52.9%), and EEG showed disorganized background activity with epileptiform abnormalities; feeding difficulties were more frequent in epilepsy patients.

Conclusions:

  • Epilepsy is a frequent comorbidity in CASK pathogenic variant patients, characterized by spasms and drug resistance.
  • Developmental disability severity is not significantly worse in patients with epilepsy and not linked to specific epilepsy or EEG features.
  • Childhood-onset epilepsy is common and may worsen, necessitating systematic monitoring.