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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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Epilepsy and Seizures: Overview01:24

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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...
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Seizures: Classification01:13

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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

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Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

John Jacob1,2,3

  • 1Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, United Kingdom.

Epilepsia
|December 20, 2015
PubMed
Summary

Autism spectrum disorder (ASD) and epilepsy share genetic links and biologic mechanisms, particularly involving cortical interneuron circuits. An imbalance in brain excitation and inhibition underlies these interconnected neurological and psychiatric conditions.

Keywords:
Autism spectrum disorderCortical interneuronEpilepsyEpileptic encephalopathyGamma-aminobutyric acid

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) and epilepsy are prevalent, heritable disorders with shared developmental origins.
  • The clinical, genetic, and neurophysiological links between ASD and epilepsy remain complex and challenging to elucidate.
  • Previous research has speculated on the interdependence of these conditions, but definitive causal relationships are difficult to establish.

Purpose of the Study:

  • To synthesize cross-disciplinary data to identify shared biological mechanisms between autism and epilepsy.
  • To examine the relationship between ASD and epilepsy at clinical, genetic, and neurophysiological levels in humans and animal models.
  • To explore the role of cortical interneuron circuits in mediating the expression of both disorders.

Main Methods:

  • Literature review using Scopus and PubMed databases.
  • Analysis of clinical, genetic, and neurophysiological data from human studies and animal models.
  • Investigation of genetic mutations using next-generation sequencing.
  • Development and study of mouse genetic models.

Main Results:

  • Next-generation sequencing has identified numerous genes associated with ASD and epilepsy, revealing genetic heterogeneity even in phenotypically similar cases.
  • Studies in humans and mouse models implicate shared brain regions and circuits in disease expression.
  • Cortical interneuron circuits, crucial for inhibitory neurotransmission (GABA), are identified as a key mediator for both ASD and epilepsy.
  • An altered excitation-inhibition ratio in the cortex is proposed as a fundamental mechanism underlying these conditions.

Conclusions:

  • ASD and epilepsy share converging genetic causes that impact cortical interneuron function.
  • Dysregulation of the excitation-inhibition balance in the brain is a critical factor in the pathophysiology of both autism and epilepsy.
  • This review validates developmental neurobiology theories linking altered neural circuit function to neurological and neuropsychiatric manifestations.