This Morning: Mother of boy with epilepsy begs for help

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Research led by a team of UNLV neuroscientists has come close to developing targeted drug therapies that could reduce seizures, sleep disorders, and related symptoms common in people with intellectual disabilities. The scientists believe that this new study has the potential to uncover the root-level cause of a number of different adverse symptoms that are associated with unique subtypes of neurodevelopmental disorders.

They believe that this work could one day improve the lives of millions worldwide.

The study, published this month in the Nature journal Molecular Psychiatry, builds on previous research by UNLV neuroscientist Rochelle Hines and collaborators.

Ms Hines’s previous study was responsible for the discovery that two key proteins—collybistin and the GABAA receptor α2 subunit—control the firing of brain cells and contribute to epileptic seizures.

The two proteins also impact learning and memory deficiencies, sleep disturbances, and other symptoms that are frequently associated with various forms of intellectual disability including Down syndrome, autism, and ADHD.

By manipulating interaction between two key brain proteins, scientists discovered that one of them — called the α2 subunit — plays a more critical role in intellectual disability and related symptoms than researchers previously thought.

The team’s most recent findings have revealed that mutations in ARHGEF9—the gene that codes for collybistin—lead to intellectual disability through impaired α2 subunit function.

They were then further able to prove that α2 is a central hub for many of the adverse neurological symptoms characteristic of multiple intellectual disability subtypes.

Ms Hines partnered with UNLV faculty and undergraduate and graduate student researchers for this study, as well as scientists from Tufts University and Boston Children’s Hospital.

She said: “Seizures and sleep deficits are two of the most common and most disruptive symptoms in children with neurodevelopmental disorders, and sleep deficits, in particular, are not well treated and can impact the entire family.

“This research gives new hope to patients that we can now develop drug therapies and provide more precise interventions.”

In addition to patients with neurodevelopmental disorders, researchers said their study has the potential to improve the quality of life more broadly for people who grapple with sleep dysfunction, epilepsy, anxiety, hyperactivity, and other neurological abnormalities.

Intellectual disability is a common neurodevelopmental disorder that can arise from genetic mutations.

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People with these disorders, which include Down syndrome and autism frequently report related symptoms such as epileptic seizures, learning and memory difficulties, and disrupted sleep-wake cycles.

Knowing which functional interaction is responsible for triggering adverse effects caused by ARHGEF9 gene mutations will help researchers develop precise drug interventions and provide enhanced care to patients.

Further research is underway, with the hope that the work may one day advance to clinical trials.

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