TY  - GEN
AU  - Nabbout,R
AU  - Gennaro,E
AU  - Dalla Bernardina,B
AU  - Dulac,O
AU  - Madia,F
AU  - Bertini,E
AU  - Capovilla,G
AU  - Chiron,C
AU  - Cristofori,G
AU  - Elia,M
AU  - Fontana,E
AU  - Gaggero,R
AU  - Granata,T
AU  - Guerrini,R
AU  - Loi,M
AU  - La Selva,L
AU  - Lispi,M L
AU  - Matricardi,A
AU  - Romeo,A
AU  - Tzolas,V
AU  - Valseriati,D
AU  - Veggiotti,P
AU  - Vigevano,F
AU  - Vallée,L
AU  - Dagna Bricarelli,F
AU  - Bianchi,A
AU  - Zara,F
TI  - Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
SN  - 1526-632X
PY  - 2004///0322
KW  - Adult
KW  - Age of Onset
KW  - Chromatography, High Pressure Liquid
KW  - DNA Mutational Analysis
KW  - Epilepsy, Absence
KW  - genetics
KW  - Ethnicity
KW  - Female
KW  - France
KW  - epidemiology
KW  - Genetic Heterogeneity
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Italy
KW  - Male
KW  - Myoclonic Epilepsy, Juvenile
KW  - NAV1.1 Voltage-Gated Sodium Channel
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Sodium Channels
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000069463.41870.2f
ER  -