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POLG mutation setting off ‘FIRES’

      We appreciate the interest shown by Joseph Finsterer, MD, PhD to our case report ‘Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: A case report.’ [
      • Menon D.
      • Marasakatla S.
      • Holla V.V.
      • Kamble N.
      • M N.
      • Pal P.K
      Fever related super-refractory status epilepticus: an adulthood presentation of a novel POLG variant: a case report.
      ]. We read with interest some of the insightful observations and comments and have the following response.

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      Linked Article

      • Do seizures in POLG1-related mitochondrial disorder become refractory due to mitochondrion-toxic anti-seizure drugs?
        Seizure - European Journal of Epilepsy
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          With interest we read the article by Menon et al. about a 28 years old female, with a non-syndromic mitochondrial disorder (MID) due to the compound heterozygous variants c.2070+2T>C and c.2243G>C in POLG1, which manifested phenotypically with mild intellectual disability and epilepsy since age 10 years [1]. She was admitted for fever and serial focal tonic-clonic seizures, which did not respond to phenytoin (PHT), carbamazepine (CBZ), and clobazam (CLB), why levetirazetam (LEV), lacosamide (LCM), and topirmate (TPM) were given, but also without benefit [1].
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