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Published on: September 20, 2024
Epilepsy in Turnpenny-Fry Syndrome: A Case Report
Rahul Khanna1, Anudeep Surendranath2, Saurabh Singhal3
1Neurology, Neurology and Sleep Clinic, West Burlington, USA.
Abstract:
Turnpenny-Fry syndrome (TPFS) is caused by a heterozygous mutation in the PCGF2 gene on chromosome 17q12. A total of 15 cases have been reported to date. Of these, only two cases of TPFS have included a confirmed history of seizures. We report a new case of TPFS with epilepsy, which suggests that further studies of this rare disease are needed to fully understand the extent of developmental abnormalities associated with such genetic syndromes. This paper summarizes the clinical features to be aware of and the diagnostic genetic testing that can lead to the appropriate diagnosis, thereby contributing to the existing literature on this rare condition.
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