Researchers discovered that a mutation in a gene called SCN8A may cause weak bones and bone loss in people who also have epilepsy and neurological problems. A 26-year-old man with this genetic mutation had low bone density, bone pain, and high levels of bone-building markers in his blood. Scientists found that this gene is active in bone-building cells, suggesting it plays a direct role in keeping bones strong. When treated with a bone-strengthening medication, his symptoms improved. This case helps doctors understand a new genetic cause of weak bones and may help identify other patients with similar problems.

The Quick Take

  • What they studied: Whether a specific gene mutation (SCN8A) could cause weak bones and bone loss in a young adult with epilepsy
  • Who participated: One 26-year-old man with a history of epilepsy, developmental delays, and unexplained weak bones
  • Key finding: The patient had a mutation in the SCN8A gene that appears to directly damage bone-building cells, leading to weak bones and bone pain. Treatment with a bone-strengthening drug improved his symptoms.
  • What it means for you: If you have epilepsy, developmental delays, and unexplained bone pain or weak bones, genetic testing for SCN8A mutations may be worth discussing with your doctor. However, this is based on a single case, so more research is needed before making treatment decisions.

The Research Details

This is a case report, which means doctors documented the medical history, symptoms, test results, and treatment of one patient. The patient came to the hospital with high levels of a bone-building enzyme in his blood and weak bones, even though vitamin D supplements didn’t help. Doctors performed genetic testing and discovered a mutation in the SCN8A gene. They then studied where this gene is active in bone tissue to understand how it might cause bone problems.

The researchers used several types of tests to understand the problem: blood tests to measure bone markers, imaging scans to look at bone density and activity, and genetic analysis to identify the mutation. They also examined which cells in bone tissue contain the SCN8A gene to figure out how it affects bone health.

After identifying the genetic cause, the patient was given alendronate, a medication that slows bone loss and strengthens bones. The doctors tracked whether his symptoms improved and his bone markers decreased.

This research matters because it identifies a completely new genetic cause of weak bones. Previously, doctors didn’t know that SCN8A mutations could damage bones. This discovery helps explain why some young people with epilepsy develop weak bones, and it opens the door to better diagnosis and treatment. Understanding how genes affect bone health can lead to new treatments for bone diseases.

This is a single case report, which is the lowest level of scientific evidence. It describes what happened to one patient, but we cannot conclude that all people with SCN8A mutations will have the same problem. The strength of this case is that the doctors did thorough testing and found a clear genetic explanation. However, more patients with this mutation need to be studied to confirm these findings and understand how common this problem is.

What the Results Show

The 26-year-old patient had several signs of weak bones: low bone mineral density on imaging scans, high levels of bone-building enzymes in his blood, and chronic pain in his ankles, hands, and ribs. Interestingly, vitamin D supplements didn’t fix the problem, suggesting the cause was something other than simple vitamin D deficiency.

Genetic testing revealed the patient carried a mutation in the SCN8A gene. This gene provides instructions for making a protein that helps control sodium movement in cells. The mutation was a ’loss-of-function’ type, meaning the protein doesn’t work properly.

When scientists examined bone tissue, they found that SCN8A is active in osteoblasts and osteocytes—the cells that build and maintain bone. Importantly, the gene was not active in osteoclasts, the cells that break down bone. This suggests the mutation directly damages bone-building cells rather than affecting bone breakdown.

After starting alendronate (a bone-strengthening medication), the patient’s bone-building enzyme levels decreased and his bone pain improved significantly.

The patient’s medical history included epilepsy and developmental delays, which are also associated with SCN8A mutations. This suggests that the same genetic mutation may cause multiple problems in the nervous system and skeletal system. The patient also showed progressive decline in physical activity, which may have contributed to bone loss but doesn’t fully explain the genetic cause.

Previous research has shown that SCN8A mutations cause neurological problems like epilepsy and developmental delays. This is the first documented case linking SCN8A mutations to bone loss and weak bones. The finding suggests that SCN8A has roles in both the nervous system and the skeletal system, which wasn’t previously understood.

This study has significant limitations because it describes only one patient. We cannot know if other people with SCN8A mutations will have the same bone problems. The patient may have other genetic or environmental factors that contributed to weak bones. We don’t know the long-term outcome of treatment or whether the bone strengthening will last. More patients with SCN8A mutations need to be studied to confirm these findings and understand how common bone problems are in this population.

The Bottom Line

If you have epilepsy or developmental delays and unexplained weak bones or bone pain, discuss SCN8A genetic testing with your doctor (moderate confidence based on single case). If a mutation is found, bone-strengthening medications like alendronate may help (moderate confidence). Vitamin D and calcium supplementation should still be maintained as standard care (high confidence). Regular bone density monitoring is recommended (moderate confidence).

Young adults with epilepsy and unexplained bone pain or weak bones should pay attention to this research. People with family histories of both neurological problems and bone disease may want to discuss genetic testing. Doctors treating patients with SCN8A mutations should now consider screening for bone problems. This research is less relevant for people without epilepsy or neurological conditions.

Based on this single case, the patient showed symptomatic improvement in bone pain within weeks to months of starting treatment. However, building stronger bones typically takes 6-12 months to show measurable improvements on imaging scans. Long-term monitoring over years is needed to assess sustained benefits.

Want to Apply This Research?

  • Track weekly bone pain levels (0-10 scale) in specific locations (ankles, hands, ribs) and correlate with activity levels and medication adherence to identify patterns and treatment effectiveness.
  • Set reminders for daily calcium and vitamin D intake, log weekly physical activity minutes (even gentle movement), and track medication doses to ensure consistent bone-strengthening treatment.
  • Monthly check-ins on pain levels and activity tolerance; quarterly reviews of medication side effects; annual bone density imaging and blood work to measure bone-building markers and assess treatment response.

This research describes a single patient case and should not be used for self-diagnosis or self-treatment. If you have unexplained bone pain, weak bones, or a family history of bone disease, consult with a healthcare provider for proper evaluation and testing. Genetic testing and bone-strengthening medications require medical supervision. This information is educational and does not replace professional medical advice.