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Case Report ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Pediatr. | doi: 10.3389/fped.2019.00348

A de novo KCNQ2 gene mutation associated with non-familial early onset seizures: case report and revision of literature data

 Gianluigi Laccetta1*, Simona Fiori2, Matteo Giampietri1,  Annarita Ferrari2, Valentina Cetica3, Manuela Bernardini1, Francesca Chesi1, Elena Parrini3,  Massimiliano Ciantelli1,  Andrea Guzzetta2 and  Paolo Ghirri1
  • 1School of Medicine, University of Pisa, Italy
  • 2Scientific Institute Stella Maris, University of Pisa, Italy
  • 3Pediatric Neurology, Meyer University Hospital, University of Florence, Italy

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per day or evolve into status epilepticus. The delivery course of our patient was uneventful and family history was negative; on the second day of life the baby became pale, rigid and apnoic during breastfeeding and appeared jittery and irritable when stimulated or examined. At age 3 days, she experienced clusters of generalized tonic seizures with pallor, desaturation, bradycardia and partial response to intravenous phenobarbital; during her 4th and 5th days of life, three episodes of tonic seizures were noticed. At age 6 days, the patient experienced about ten episodes of tonic seizures involving both sides of the body, which gradually responded to intravenous phenytoin. Electroencephalograms revealed abnormalities but brain MRI was normal. The patient is seizure-free since postnatal day 21; she is now 12 months old with cognitive development within normal limits at Bayley III Scale and mild motor delay. The patient is on maintenance therapy with phenobarbital since she was 7 months old. A de novo heterozygous mutation (c.853C>T/p.P285S) in the KCNQ2 gene was identified. We therefore describe a case of de novo KCNQ2-related neonatal convulsions with necessity of multiple anticonvulsants for the control of seizures, mutation occurring in the pore channel of the voltage-gated potassium channel subfamily Q member 2 associated with a likely benign course; furthermore, the same mutation of the KCNQ2 gene and a similar one (c.854C>A/p.P285H) have already been described in association with Ohtahara syndrome. Probably acquired environmental, perinatal and genetic risk factors are very important in determining the different phenotype; we hope that the rapid progress of analysis tools in molecular diagnosis can also be used in the search of an individualized therapeutic approach for these patients.

Keywords: KCNQ2, Seizures, Mutation, Benign familial neonatal convulsions, Phenobarbital

Received: 02 May 2019; Accepted: 05 Aug 2019.

Copyright: © 2019 Laccetta, Fiori, Giampietri, Ferrari, Cetica, Bernardini, Chesi, Parrini, Ciantelli, Guzzetta and Ghirri. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD. Gianluigi Laccetta, School of Medicine, University of Pisa, Pisa, 56126, Tuscany, Italy,