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Brain Waves01:23

Brain Waves

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Brain waves are electrical signals generated by the neurons in the brain, which are regularly monitored to measure mental activities. Brain waves and their frequency ranges can be measured using an electroencephalogram or EEG. There are four main types of brain waves, each with distinct characteristics:
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Related Experiment Video

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Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
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Hypersynchronous EEG Patterns in a Patient with Holoprosencephaly.

Vishal Pandya1, Doris Deng1, Siddharth Gupta1,2

  • 1Comprehensive Epilepsy Center, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.

Clinical EEG and Neuroscience
|May 31, 2025
PubMed
Summary

This study details a rare holoprosencephaly case with a PPP1R12A gene variant, revealing unique EEG patterns in the middle interhemispheric variant. Findings advance understanding of brain malformations and their electroencephalographic signatures.

Keywords:
PPP1R12Aelectroencephalography (EEG)epilepsyholoprosencephalyhypersynchronousseizure

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Holoprosencephaly (HPE) is a congenital brain malformation due to failed forebrain division.
  • The middle interhemispheric (MIH) variant is a less common form of HPE.
  • Genetic factors, including PPP1R12A variants, are implicated in HPE.

Purpose of the Study:

  • To describe the electroencephalography (EEG) findings in a patient with the MIH variant of holoprosencephaly and a de novo pathogenic PPP1R12A variant.
  • To report novel EEG patterns associated with this specific HPE variant and genetic mutation.
  • To contribute to a better understanding of the spectrum of EEG abnormalities in holoprosencephaly.

Main Methods:

  • Case report of a patient with holoprosencephaly.
  • Genetic analysis identifying a de novo pathogenic variant in the PPP1R12A gene.
  • Electroencephalography (EEG) recording and analysis of brain activity patterns.

Main Results:

  • The patient presented with the middle interhemispheric (MIH) variant of holoprosencephaly.
  • EEG revealed prevalent hypersynchronous rhythmic theta activity, particularly over bilateral centro-parietal regions.
  • Novel findings included frequent hypersynchronous rhythmic beta activity, synchronous/asynchronous rhythmic alpha activity, and episodic voltage attenuation, with hypersynchronous alpha activity being a first report in HPE.

Conclusions:

  • This is the first report of EEG findings in a patient with the MIH variant of holoprosencephaly and a PPP1R12A gene variant.
  • The study highlights unique EEG patterns, including hypersynchronous alpha activity, in this specific HPE subtype.
  • Further research is needed to fully characterize EEG patterns across all holoprosencephaly variants, despite challenges posed by disease rarity.