Related Experiment Video
Updated: Jan 3, 2026

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report
Gian C Rossi1, Amy L Patterson1, Amy L McGregor1
1Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital Neuroscience Institute, Memphis, TN, USA.
Gain-of-function mutations in the calcium-sensing receptor gene can cause both hypocalcemia and epilepsy. This case highlights a child with intractable epilepsy and calcium imbalance due to this genetic mutation.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Gain-of-function mutations in the calcium-sensing receptor (CaSR) gene are associated with autosomal dominant hypocalcemia.
- Independently, these mutations have also been linked to epilepsy syndromes.
- The co-occurrence of both conditions in a single patient is rare.
More Related Videos
Related Concept Videos
Antiepileptic Drugs: Calcium Channel Blockers
Calcium channel blockers exert their antiepileptic effects by targeting T-type calcium channels, which are integral to transmitting nerve signals in the central nervous system. These channels allow the passage of calcium ions, which are vital for neuronal communication. By inhibiting T-type calcium channels, calcium channel blockers effectively reduce the release of neurotransmitters and...
Seizures: Classification
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:
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Antiepileptic Drugs: Potassium Channel Activators
Ezogabine has gained approval as an adjunctive treatment...
Antiepileptic Drugs: GABAergic Pathway Potentiators
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
Antiepileptic Drugs: Glutamate Antagonists

