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SCN2A

·April 26, 2024·7 min read

SCN2A Gene Variants Dictate Neurological Disorder Severity

A new study reveals how genetic variants in the SCN2A gene influence the severity and type of neurological impairments, including epilepsy and autism. This study analyzed the function of sodium channels affected by SCN2A mutations, revealing a spectrum of effects from hyperactivity to inactivity.

Featured Genetics Neurology Neuroscience Open Neuroscience Articles

·April 26, 2019·3 min read

Trigger region found for absence epileptic seizures

Absence epilepsy may be triggered by an impairment in communication between the striatum and somatosensory cortex.

Featured Genetics Neurology Open Neuroscience Articles

·January 10, 2019·5 min read

Novel Epilepsy Genes Identified

Researchers have identified 16 DNA regions associated with epilepsy. Eleven of the regions are newly identified.

Featured Genetics Neuroscience

·June 4, 2018·4 min read

Gene Linked to Intellectual Ability Affects Memory Replay: Mouse Study

SCN2A, a gene commonly associated with intellectual ability, plays an essential role in memory formation and replay, a new study reports.

Image shows a jigsaw with a dna strand on it.

Autism Featured Genetics

·September 1, 2017·6 min read

New Genetic Risk Factor For Autism Spectrum Disorder Identified

Researchers explore the role postzygotic mosaic mutations play in the development of autism spectrum disorders.

Image shows a brain with the amygdala highlighted in red.

Autism Featured Genetics

·July 17, 2017·5 min read

Late Breaking Mutations May Play an Important Role in Autism

A study in Nature Neuroscience reveals mutations that occur after conception could play an important role in autism. The study reports post-zygotic mutations occur disproportionately in genes expressed in the amygdala in those on the autism spectrum.

Autism Featured Genetics Neurology

·January 27, 2017·6 min read

Autism Researchers Discover Genetic ‘Rosetta Stone’

Researchers report a genetic defects in the SCN2A protein can lead to either ASD or infantile epilepsy, depending on whether the mutations boost or sabotage the protein's function.

Autism Featured

·July 11, 2013·4 min read

Autism Speaks Collaborative Releases First Full Genome Sequencing for Autism

Researchers have found full genome sequencing by examining the entire DNA code of individuals with ASD and their families. The findings look at the wide range of genetic factors associated with ASD.