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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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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.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
330

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PIGN encephalopathy: Characterizing the epileptology.

Allan Bayat1,2, Guillem de Valles-Ibáñez3, Manuela Pendziwiat4,5

  • 1Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.

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|February 18, 2022
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Summary

PIGN encephalopathy, a genetic disorder, often causes severe developmental issues and a wide range of epilepsy types. Many patients experience drug-resistant seizures, highlighting the complexity of this condition.

Keywords:
GPI-anchoring disordercongenital disorder of glycosylationdevelopmental and epileptic encephalopathyepilepsyintellectual disability

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Epilepsy is a common symptom in patients with PIGN diseases, which are caused by biallelic variants.
  • Limited data exists on the specific epilepsy phenotypes associated with PIGN encephalopathy.

Purpose of the Study:

  • To describe the epilepsy characteristics (epileptology) in patients with PIGN encephalopathy.
  • To analyze seizure types, developmental outcomes, and genetic variants in PIGN-related epilepsy.

Main Methods:

  • Recruited patients with epilepsy due to biallelic PIGN variants.
  • Collected clinical data including seizure history, development, EEG, neuroimaging, and treatment.
  • Classified seizure and epilepsy types, including developmental and epileptic encephalopathy (DEE) and intellectual disability with epilepsy (ID+E).

Main Results:

  • Twenty-six patients were studied, with 25 showing abnormal development at seizure onset.
  • Epilepsy phenotypes varied, with 20 patients classified as DEE and 6 as ID+E.
  • DEE patients typically had drug-resistant epilepsy, while some ID+E patients achieved seizure freedom. Hyperkinetic movement disorder was noted in 13 patients.

Conclusions:

  • PIGN encephalopathy is an autosomal recessive disorder with diverse epilepsy phenotypes and significant developmental impairment.
  • The study characterizes the spectrum of epilepsy in PIGN encephalopathy, differentiating between DEE and ID+E classifications.
  • Genetic variants, including recurrent ones like p.Leu311Trp, contribute to the varied clinical presentations.