Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

Elena Gennaro, Filippo M. Santorelli, Enrico Bertini, Daniela Buti, Roberto Gaggero, Giuseppe Gobbi, Marcella Lini, Tiziana Granata, Elena Freri, Antonia Parmeggiani, Pasquale Striano, Pierangelo Veggiotti, Simona Cardinali, Franca Dagna Bricarelli, Carlo Minetti, Federico Zara

Research output: Contribution to journalArticlepeer-review


Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the α1-subunit of the neuronal voltage-gated sodium channel. We report two unrelated families in which probands were affected by SMEI and their parents showed a single febrile seizure during early childhood or no neurological symptoms. Semiquantitative analysis of SCN1A mutations allowed the detection of a somatic and germline mosaicism in one of the parents. The study provides the first example of parental mosaicisms in SMEI and opens a new insight into the phenotypic variability and complex inheritance of this condition. The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods.

Original languageEnglish
Pages (from-to)489-493
Number of pages5
JournalBiochemical and Biophysical Research Communications
Issue number2
Publication statusPublished - Mar 10 2006


  • Epilepsy
  • Germline
  • Ion channel
  • Mosaicism
  • SCN1A
  • SMEI
  • Somatic

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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