Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Regression Toward the Mean01:52

Regression Toward the Mean

7.2K
Regression toward the mean (“RTM”) is a phenomenon in which extremely high or low values—for example, and individual’s blood pressure at a particular moment—appear closer to a group’s average upon remeasuring. Although this statistical peculiarity is the result of random error and chance, it has been problematic across various medical, scientific, financial and psychological applications. In particular, RTM, if not taken into account, can interfere when...
7.2K
Mutations01:39

Mutations

94.6K
Overview
94.6K
Language01:16

Language

918
Language is a unique communication system that uses words and systematic rules to organize and transmit information. Unlike other forms of communication, which may involve postures, movements, odors, or vocalizations, language relies on symbols and grammar. This makes human communication distinct from that of other species, who also communicate but do not use language in the same way humans do.
Corballis and Suddendorf (2007) and Tomasello and Rakoczy (2003) highlight the role of language in...
918
Multiple Regression01:25

Multiple Regression

4.0K
Multiple regression assesses a linear relationship between one response or dependent variable and two or more independent variables. It has many practical applications.
Farmers can use multiple regression to determine the crop yield based on more than one factor, such as water availability, fertilizer, soil properties, etc. Here, the crop yield is the response or dependent variable as it depends on the other independent variables. The analysis requires the construction of a scatter plot...
4.0K
Viral Mutations00:36

Viral Mutations

39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Correlation and Regression00:53

Correlation and Regression

3.5K
In statistics, correlation describes the degree of association between two variables. In the subfield of linear regression, correlation is mathematically expressed by the correlation coefficient, which describes the strength and direction of the relationship between two variables. The coefficient is symbolically represented by 'r' and ranges from -1 to +1. A positive value indicates a positive correlation where the two variables move in the same direction. A negative value suggests a...
3.5K

You might also read

Related Articles

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

Sort by
Same author

Small-Fiber Neuropathy in an Adolescent With Prader-Willi Syndrome.

Pediatric neurologyยท2026
Same author

Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic.

Pediatric neurologyยท2024
Same author

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Nature geneticsยท2022
Same author

Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression".

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Societyยท2021
Same author

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Geneticsยท2021
Same author

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Geneticsยท2021

Related Experiment Video

Updated: Feb 8, 2026

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting
06:16

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on: June 6, 2020

4.6K

Language Regression in an Atypical SLC6A1 Mutation.

Monica P Islam1, Gail E Herman2, Emily C de Los Reyes1

  • 1Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH.

Seminars in Pediatric Neurology
|July 3, 2018
PubMed
Summary

Genetic testing for epilepsy in children has advanced, aiding in understanding disease causes. A case study highlights a SLC6A1 mutation linked to language delay and autism, suggesting new therapeutic targets.

More Related Videos

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep
13:42

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

Published on: January 19, 2014

14.0K
Decomposing the Variance in Reading Comprehension to Reveal the Unique and Common Effects of Language and Decoding
06:33

Decomposing the Variance in Reading Comprehension to Reveal the Unique and Common Effects of Language and Decoding

Published on: October 11, 2018

7.2K

Related Experiment Videos

Last Updated: Feb 8, 2026

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting
06:16

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on: June 6, 2020

4.6K
Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep
13:42

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

Published on: January 19, 2014

14.0K
Decomposing the Variance in Reading Comprehension to Reveal the Unique and Common Effects of Language and Decoding
06:33

Decomposing the Variance in Reading Comprehension to Reveal the Unique and Common Effects of Language and Decoding

Published on: October 11, 2018

7.2K

Area of Science:

  • Genetics
  • Pediatric Neurology
  • Molecular Biology

Background:

  • Epilepsy in children is increasingly understood through advances in genetic sequencing technologies.
  • Exome and targeted gene panels provide deeper insights into epilepsy pathogenesis and clinical phenotypes.

Observation:

  • A pediatric case is presented involving a mutation in the SLC6A1 gene.
  • This specific mutation was associated with significant language delay and autistic spectrum disorder.

Findings:

  • Identification of specific genetic mutations, such as in SLC6A1, is crucial for understanding complex neurological conditions.
  • The study links SLC6A1 mutations to a distinct clinical presentation including developmental delays.

Implications:

  • Pinpointing specific mutations enhances the potential for identifying targeted therapeutic strategies for epilepsy and related disorders.
  • Advances in genetic sequencing pave the way for personalized medicine approaches in pediatric neurology.