Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a...
Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a zebrafish CHD2 model
About this item
Full title
Author / Creator
Melikishvili, Gia , Striano, Pasquale , Shojeinia, Elham , Gachechiladze, Tamar , Kurua, Ekaterine , Tabatadze, Nazhi , Melikishvili, Mariam , Koniashvili, Otar , Khachiashvili, Gvantsa , Epitashvili, Nino , Rimma, Gamirova , Belyaev, Oleg , Tomenko, Tatyana , Kharytonov, Volodymyr , Guliyeva, Ulviyya , Esguerra, Camila V. , Crawford, Alexander D. and Dulac, Olivier
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
CHD2‐related epilepsy is characterized by early‐onset photosensitive myoclonic epilepsy with developmental delay and a high rate of pharmacoresistance. We sought to evaluate the efficacy of acetazolamide (ACZ) in CHD2‐related epilepsy, due to ACZ's unexpected efficacy in our first patient harboring a pathogenic CHD2 variant. We collected patients f...
Alternative Titles
Full title
Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a zebrafish CHD2 model
Authors, Artists and Contributors
Author / Creator
Striano, Pasquale
Shojeinia, Elham
Gachechiladze, Tamar
Kurua, Ekaterine
Tabatadze, Nazhi
Melikishvili, Mariam
Koniashvili, Otar
Khachiashvili, Gvantsa
Epitashvili, Nino
Rimma, Gamirova
Belyaev, Oleg
Tomenko, Tatyana
Kharytonov, Volodymyr
Guliyeva, Ulviyya
Esguerra, Camila V.
Crawford, Alexander D.
Dulac, Olivier
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e5aa511207164ad89a4056dd55618203
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e5aa511207164ad89a4056dd55618203
Other Identifiers
ISSN
2470-9239
E-ISSN
2470-9239
DOI
10.1002/epi4.13034
