Abstract | AIMS: METHODS: Eleven patients with SCN2A-related DEE were included in the study. The characteristics of SCN2A mutations, electroclinical features, clinical course, and response to treatment modalities were analysed. RESULTS: CONCLUSIONS:
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Authors | Hyo Jeong Kim, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang |
Journal | Epileptic disorders : international epilepsy journal with videotape
(Epileptic Disord)
Vol. 22
Issue 5
Pg. 563-570
(Oct 01 2020)
ISSN: 1950-6945 [Electronic] France |
PMID | 33000761
(Publication Type: Journal Article)
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Chemical References |
- Anticonvulsants
- NAV1.2 Voltage-Gated Sodium Channel
- SCN2A protein, human
- Sodium Channel Blockers
- Steroids
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Topics |
- Age of Onset
- Anticonvulsants
(pharmacology)
- Child
- Child, Preschool
- Diet, Ketogenic
- Drug Resistant Epilepsy
(drug therapy, genetics, physiopathology)
- Epileptic Syndromes
(drug therapy, genetics, physiopathology)
- Female
- Humans
- Infant
- NAV1.2 Voltage-Gated Sodium Channel
(genetics)
- Phenotype
- Retrospective Studies
- Sodium Channel Blockers
(pharmacology)
- Spasms, Infantile
(drug therapy, genetics, physiopathology)
- Steroids
(pharmacology)
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