Rare Startle Disorder Often Mistaken For Epilepsy
⚠️ Infant dosing/safety: medication and diet decisions for infants require individualized medical guidance.
Source: Pediatric neurology
Summary
This study looked at 16 children and young people in southern Turkey who had hyperekplexia, also called hereditary startle disease, a rare condition that is often mistaken for epilepsy. The researchers reviewed cases from five hospitals between 2011 and 2025. All of the patients had genetic testing, and the team compared their symptoms, treatment response, and development based on which gene change they had.
The main finding was that every patient had been first diagnosed as having epilepsy, even though their attacks were not epileptic. The middle delay before the correct diagnosis was a little over 2 years. Gene changes were found in three genes: GLRA1 in 9 patients, SLC6A5 in 4, and GLRB in 3. Patients with GLRA1 or SLC6A5 changes usually improved with clonazepam. The 3 patients with the same GLRB change, all from one family, had more severe developmental problems, autism-related features, and did not respond as well to standard medicines in this group.
This matters because hyperekplexia can be treated, but if it is confused with epilepsy, children may go a long time without the right care. The study also suggests that some gene changes, especially in GLRB, may be linked to a more complex condition. Still, this was a small study from one region of Turkey, and only 16 patients were included, so the results may not apply to everyone with hyperekplexia.
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