The spectrum of intermediate SCN8A-related epilepsy
Contributeurs/tricesJohannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; Linnankivi, Tarja; Petersen, Michael B; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J; Pal, Deb K; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D; Sisodiya, Sanjay M; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Bürki, Sarah E; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Brünger, Tobias; Zara, Federico; Striano, Pasquale; Rubboli, Guido; Møller, Rikke S
Publié dansEpilepsia, vol. 60, no. 5, p. 830-844
Date de publication2019
Résumé
Mots-clés
- Anticonvulsants/therapeutic use
- Ataxia/genetics
- Child
- Child
- Preschool
- Cognitive Dysfunction/genetics
- Electroencephalography
- Epilepsy/drug therapy/genetics/physiopathology
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Intellectual Disability/genetics
- Language Development Disorders/genetics
- Movement Disorders/genetics
- Muscle Hypotonia/genetics
- Mutation
- Missense
- NAV1.6 Voltage-Gated Sodium Channel/genetics
- Pedigree
- Severity of Illness Index
Structure d'affiliation
Citation (format ISO)
JOHANNESEN, Katrine M et al. The spectrum of intermediate SCN8A-related epilepsy. In: Epilepsia, 2019, vol. 60, n° 5, p. 830–844. doi: 10.1111/epi.14705
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:146004
- DOI : 10.1111/epi.14705
- PMID : 30968951
ISSN du journal0013-9580