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TürkiyeDiagnosis and screening

18 children with Dravet syndrome in Istanbul: when genetic diagnosis was delayed, some drugs increased seizures

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing. Dravet syndrome was confirmed in 18 of them. Six gene changes were described for the first time. Seizures had started between 2.5 and 8 months of age. Sodium channel drugs given to some children before diagnosis made their seizures worse.

What does it mean for patients and families?

For seizures that begin early in infancy, early gene testing can help avoid unsuitable drugs. Treatment decisions are made with a pediatric neurologist.

Source

PubMed (Turkish Archives of Pediatrics): Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

Scientific paper: Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management. Turkish Archives of Pediatrics, 2026. DOI: 10.65717/TurkArchPediatr.2026.26154 · PubMed 42541470

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

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This page was translated from Turkish by the Doktorclub editorial team.