Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant

Pediatr Neurol. 2020 Jul:108:121-122. doi: 10.1016/j.pediatrneurol.2020.03.012. Epub 2020 Mar 19.

Authors

Louis T Dang¹, Shane C Quinonez², Bridget R Becka³, Lori L Isom⁴, Sucheta M Joshi³

Affiliations

¹ Division of Pediatric Neurology, Department of Pediatrics, Michigan Medicine, Ann Arbor, Michigan. Electronic address: louisdan@med.umich.edu.
² Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, Michigan Medicine, Ann Arbor, Michigan.
³ Division of Pediatric Neurology, Department of Pediatrics, Michigan Medicine, Ann Arbor, Michigan.
⁴ Departments of Pharmacology, Neurology, Molecular and Integrative Physiology, Michigan Medicine, Ann Arbor, Michigan.

PMID: 32303391
PMCID: PMC8649903
DOI: 10.1016/j.pediatrneurol.2020.03.012

No abstract available

Keywords: Generalized epilepsy with febrile seizures plus; Genetic epilepsy; SCN1B; Sodium channel.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Anticonvulsants
Child, Preschool
Drug Resistant Epilepsy* / drug therapy
Drug Resistant Epilepsy* / genetics
Drug Resistant Epilepsy* / physiopathology
Electroencephalography
Epilepsy, Generalized* / drug therapy
Epilepsy, Generalized* / genetics
Epilepsy, Generalized* / physiopathology
Humans
Male
Phenytoin / pharmacology*
Seizures, Febrile* / drug therapy
Seizures, Febrile* / genetics
Seizures, Febrile* / physiopathology
Voltage-Gated Sodium Channel beta-1 Subunit / genetics*

Substances

Anticonvulsants
SCN1B protein, human
Voltage-Gated Sodium Channel beta-1 Subunit
Phenytoin

Grants and funding