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Article

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

Biochemical and biophysical research communications - 10 Mar 2006

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

Abstract excerpt

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 alpha1-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...

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Identifiers

PMID: 16430863
DOI: 10.1016/j.bbrc.2005.12.209

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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