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Rare disease
Case report
Infantile refractory seizures due to de novo KCNT 1 mutation
  1. Mahdi Alsaleem1,
  2. Vivien Carrion2,
  3. Arie Weinstock3 and
  4. Praveen Chandrasekharan2
  1. 1 Pediatrics, Children's Mercy Hospital, University of Kansas, Wichita, Kansas, USA
  2. 2 Pediatrics, University at Buffalo - The State University of New York, Buffalo, New York, USA
  3. 3 Neurology, University at Buffalo - The State University of New York, Buffalo, New York, USA
  1. Correspondence to Dr Mahdi Alsaleem; dmahdialsaleem{at}hotmail.com

Abstract

We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant’s condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

  • neurology (drugs and medicines)
  • epilepsy and seizures
  • neuro genetics

http://dx.doi.org/10.1136/bcr-2019-231178

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    Footnotes

    • Twitter @chandrpk

    • Contributors MA, PC and VC contributed to the design, draft and revision for this report. AW extensively revised this draft and contributed to the design of the revised paper. All authors approved the final version of this draft and agreed to be accountable for all aspects of the work; ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.