Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

Notch Signaling Pathway

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Effect of Concurrent Anti-Seizure Medications on the Efficacy of the Ketogenic Diet in Children with Epilepsy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques·2026

Same author

Closed-loop stimulation modulates attention shifting in children.

Nature neuroscience·2026

Same author

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Genome medicine·2026

Same author

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review.

Movement disorders clinical practice·2026

Same author

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia.

Movement disorders clinical practice·2026

Same journal

Corrigendum to Temporary Pacemaker in a Pediatric Guillain-Barré Case With Life-Threatening Bradyarrhythmia Pediatr Neurol 177 (2026) 109-110. doi: 10.1016/j.pediatrneurol.2026.01.015.

Pediatric neurology·2026

Same journal

Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease).

Pediatric neurology·2026

Same journal

Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.

Pediatric neurology·2026

Same journal

Impact of Postpandemic Pediatric Infection Rebound on Febrile Seizures: A Nationwide Cohort Study, 2013-2023.

Pediatric neurology·2026

Same journal

The Hidden Cost of Developmental and Epileptic Encephalopathy in Australia: Caregiver Quality of Life, Sleep, Depression, and Workforce Participation.

Pediatric neurology·2026

Same journal

A Novel Neonatal Brain Injury Score for Infants With Congenital Diaphragmatic Hernia.

Pediatric neurology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 28, 2026

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

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

Stepwise developmental regression associated with novel CACNA1A mutation.

Andrea A Guerin¹, Annette Feigenbaum, Elizabeth J Donner

¹Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.

Pediatric Neurology

|October 23, 2008

Summary

This summary is machine-generated.

A novel CACNA1A gene variant, Ile712Val, was identified in an 11-year-old girl experiencing seizures, ataxia, and developmental regression. This finding expands the known spectrum of CACNA1A-related neurological disorders.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 28, 2026

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

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

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Neurogenetics
Molecular Neurology

Background:

Mutations in the CACNA1A gene are associated with neurological disorders including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.
The CACNA1A gene encodes a subunit of the P/Q-type calcium channel, crucial for neuronal excitability and synaptic transmission.

Observation:

An 11-year-old female presented with recurrent seizures, ataxia, headaches, decreased consciousness, and motor regression.
She had a history of mental retardation and mild cerebellar atrophy.

Findings:

Genetic analysis revealed a de novo Ile712Val sequence variant in the CACNA1A gene.
This specific variant had not been previously reported in scientific literature.

Implications:

The identification of this novel CACNA1A variant expands the mutational spectrum associated with this gene.
This case highlights the potential role of CACNA1A gene variants in complex pediatric neurological presentations, including epilepsy and ataxia.
Further research is warranted to elucidate the functional consequences of the Ile712Val variant and its precise contribution to the observed phenotype.