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Related Concept Videos

Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
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Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
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Ligand-gated ion channels are transmembrane proteins that play a vital role in intercellular communication and functions of the nervous system. They allow the influx of ions across the membrane once the neurotransmitter binds, allowing the subsequent transmission of electrical excitation across the neurons. Other ligand-gated ion channels, like the γ-aminobutyric acid (GABA) receptor, permit anions like chloride into the cells on the binding of the GABA molecule. Their entry into the cell...
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Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

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γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
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Antiepileptic Drugs: Glutamate Antagonists

Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...

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Updated: May 28, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Case 346: γ-Aminobutyric Acid A Receptor Encephalitis.

Anthony Sposato1, Maria A Mazzola2, Mara M Kunst1

  • 1Department of Radiology, Lahey Hospital and Medical Center, 41 Mall Rd, Burlington, MA 01805.

Radiology
|May 26, 2026
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Summary

This case study details a patient with initial neurological symptoms and later psychiatric and seizure disorders. Extensive testing ruled out common causes, highlighting diagnostic challenges in complex neurological presentations.

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Published on: November 23, 2013

Area of Science:

  • Neurology
  • Neuroimmunology
  • Diagnostic Imaging

Background:

  • A 66-year-old male with hypertension presented with acute neurological deficits including jaw jerking, aphasia, and dysarthria.
  • Initial investigations including brain MRI revealed nonspecific hyperintensities, while extensive serologic and cerebrospinal fluid (CSF) testing for infectious, autoimmune, and paraneoplastic etiologies were negative.

Purpose of the Study:

  • To describe a challenging case of recurrent neurological and psychiatric symptoms with an initially unclear etiology.
  • To highlight the diagnostic process and differential considerations for patients presenting with atypical neurological manifestations.

Main Methods:

  • Clinical presentation and neurological examination.
  • Brain MRI (T2-weighted FLAIR), CT angiography of head and neck, chest/abdomen/pelvis CT, and spinal MRI.
  • Extensive laboratory testing: infectious, autoimmune, paraneoplastic serologies, CSF analysis (protein electrophoresis, PCR for JC virus and HSV, MOG antibodies, autoimmune encephalitis panel).

Main Results:

  • Initial presentation showed nonspecific brain MRI findings and negative extensive workup for common neurological disorders.
  • The patient experienced transient improvement with symptomatic treatment (nicardipine, levetiracetam) and a presumptive diagnosis of posterior reversible encephalopathy syndrome (PRES).
  • Three years later, the patient developed mood alterations, psychosis, and seizures, with repeat workup again negative for autoimmune and infectious causes, including MOG antibodies.

Conclusions:

  • This case underscores the diagnostic difficulties in patients with complex, evolving neurological and psychiatric symptoms.
  • The negative extensive workup suggests a rare or atypical underlying pathology, necessitating consideration of less common etiologies.
  • The patient's delayed and altered presentation highlights the importance of long-term follow-up and re-evaluation in neurology.