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

Genetic Lingo

Genetic Lingo

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Pedigree Analysis

Pedigree Analysis

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Law of Segregation

Law of Segregation

When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.

You might also read

Related Articles

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

Sort by

Same author

Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.

Movement disorders clinical practice·2026

Same author

In vitro ibuprofen has gene regulatory and anti-inflammatory properties in peripheral blood mononuclear cells of individuals with infection-provoked neurodevelopmental disorders.

Inflammopharmacology·2026

Same author

Peripheral blood transcriptomics identifies cohesin-chromatin and immune dysregulation in tics and Tourette syndrome.

Frontiers in neurology·2026

Same author

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Same author

cGAS inhibitor IMSB301 modifies interferon signalling in peripheral mononuclear cells of <i>SAMHD1</i> genetic interferonopathy <i>in vitro</i>.

Clinical & translational immunology·2026

Same author

Expert commentary on "A novel homozygous SQSTM1 frameshift variant in a Filipino adolescent with childhood-onset ataxia and gaze palsy".

Parkinsonism & related disorders·2026

Same journal

Association of relative age with medical consultations for developmental concerns: A nationwide birth cohort study in Japan.

Brain & development·2026

Same journal

Extending the combined N-back/Nogo paradigm: Toward subtype-sensitive and translationally meaningful ERP research in ADHD.

Brain & development·2026

Same journal

Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.

Brain & development·2026

Same journal

From weather stations to the home environment: Refining seizure prediction in pediatric drug-resistant epilepsy.

Brain & development·2026

Same journal

Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes.

Brain & development·2026

Same journal

Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study.

Brain & development·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Dec 9, 2025

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

Dominant SCN2A mutation with variable phenotype in two generations.

Gouri Rao Passi¹, Shekeeb S Mohammad²

¹Department of Pediatrics, Choithram Hospital & Research Centre, Indore, India.

Brain & Development

|September 7, 2020

Summary

This summary is machine-generated.

Sodium channel gene SCN2A mutations can cause various neurodevelopmental disorders. This study highlights SCN2A mutations presenting as episodic ataxia and hemiplegia, expanding the known SCN2A-related phenotypes.

Keywords:

Episodic ataxia Episodic hemiplegia SCN2A mutation

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Related Experiment Videos

Last Updated: Dec 9, 2025

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

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

Genetics
Neuroscience
Clinical Neurology

Background:

Mutations in the SCN2A gene are a frequent cause of neurodevelopmental disorders.
These disorders encompass epilepsy, movement disorders, autism spectrum disorder, and intellectual disability.
Rarely, SCN2A mutations manifest as episodic ataxia.

Observation:

A family presented with a dominantly inherited SCN2A mutation.
The mutation manifested as episodic ataxia in a son and episodic hemiplegia in his father.

Findings:

The SCN2A mutation phenotype was expanded beyond typical neurodevelopmental disorders.
This case highlights episodic ataxia and hemiplegia as potential presentations of SCN2A mutations.

Implications:

This expands the clinical understanding of SCN2A-related disorders.
Further research into SCN2A's role in episodic neurological conditions is warranted.