Related Experiment Video

Updated: Nov 19, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

791

Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

Christopher M McGraw1,2,3, Sonal Mahida3, Parul Jayakar4

  • 1Epilepsy, Massachusetts General Hospital, Boston, Massachusetts, USA.

Annals of Clinical and Translational Neurology
|January 26, 2021
PubMed

Insights

Biallelic variants in the CAD gene cause severe neurological issues. Uridine supplementation showed significant benefits for epilepsy and development in one sibling, demonstrating precision medicine potential.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Progressive cerebellar atrophy and intractable epilepsy are debilitating neurological conditions.
  • Genetic variants in the CAD gene are implicated in severe neurodevelopmental disorders.

Observation:

  • Two siblings presented with intractable epilepsy, developmental regression, and progressive cerebellar atrophy.
  • The patients harbored biallelic variants in the CAD gene.

Findings:

  • Early uridine supplementation in a 5-year-old girl led to remarkable seizure control, developmental improvements, halted cerebellar atrophy, and resolved hematological issues.
  • Later uridine treatment in her older brother (at 14 years old) showed only a modest response, suggesting a critical window for intervention.

Implications:

  • Uridine supplementation represents a potential precision treatment for CAD-related disorders.
  • This case highlights the importance of early diagnosis and intervention using biomarkers for progressive neurological conditions.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

2.2K

Related Concept Videos

RNA Editing02:23

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
9.5K
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
430
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
526
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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...
869
Genetic Lingo01:11

Genetic Lingo

Overview
111.0K
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
153.0K