Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy
- 1 March 2006
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 341 (2) , 489-493
- https://doi.org/10.1016/j.bbrc.2005.12.209
Abstract
No abstract availableKeywords
Funding Information
- Ministero della Salute
- Fondazione Pierfranco e Luisa Mariani
This publication has 13 references indexed in Scilit:
- Identification of an Na v 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizuresProceedings of the National Academy of Sciences, 2005
- A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizuresBrain & Development, 2005
- Effect of localization of missense mutations in SCN1A on epilepsy phenotype severityNeurology, 2004
- Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancyPediatric Neurology, 2004
- Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)Epilepsia, 2004
- Spectrum ofSCN1Amutations in severe myoclonic epilepsy of infancyNeurology, 2003
- Severe infantile epilepsies: molecular genetics challenge clinical classificationBrain, 2003
- Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizuresBrain, 2003
- Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancyBiochemical and Biophysical Research Communications, 2002
- De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of InfancyAmerican Journal of Human Genetics, 2001