Výsledky vyhledávání - "Olivier Dulac"

Akademický článek

Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a zebrafish CHD2 model

Autor: Gia Melikishvili, Pasquale Striano, Elham Shojeinia, Tamar Gachechiladze, Ekaterine Kurua, Nazhi Tabatadze, Mariam Melikishvili, Otar Koniashvili, Gvantsa Khachiashvili, Nino Epitashvili, Gamirova Rimma, Oleg Belyaev, Tatyana Tomenko, Volodymyr Kharytonov, Ulviyya Guliyeva, Camila V. Esguerra, Alexander D. Crawford, Olivier Dulac

Publikováno v: Epilepsia Open, Vol 9, Iss 5, Pp 1972-1980 (2024)

Abstract 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,

Externí odkaz: https://doaj.org/article/e5aa511207164ad89a4056dd55618203

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Akademický článek

Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data

Autor: Rima Nabbout, Sara Matricardi, Paola De Liso, Olivier Dulac, Mehdi Oualha

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

Background and purposeKetogenic diet (KD) is an emerging treatment option for super-refractory status epilepticus (SRSE). We evaluated the effectiveness of KD in patients presenting SRSE including NORSE (and its subcategory FIRES).MethodsA retrospect

Externí odkaz: https://doaj.org/article/9574ac1e9a5a4ac9bfc943c477303a07

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Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet

Autor: Sophio Gverdtsiteli, Tamar Gachechiladze, Mariam Melikishvili, Nazhi Tabatadze, Olivier Dulac, Thierry Bienvenu, Gia Melikishvili, Ekaterine Kurua

Publikováno v: Seizure. 94:70-73

To report the effect of the ketogenic diet (KD) on non-convulsive status epilepticus (NCSE) due to Angelman syndrome (AS) in two members of a large Georgian family affected by a novel frameshift variant in the UBE3A gene (NM_000462.3).We evaluated tw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011d31a611fba4a4cb075c64aa617115
https://doi.org/10.1016/j.seizure.2021.11.012

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GluN2C selective inhibition is a target to develop new antiepileptic compounds

Autor: Svetlana Gataullina, Gilles Galvani, Sabrina Touchet, Caroline Nous, Éric Lemaire, Jacques Laschet, Catherine Chiron, Olivier Dulac, Elena Dossi, Jean‐Daniel Brion, Samir Messaoudi, Mouad Alami, Gilles Huberfeld

Publikováno v: EpilepsiaREFERENCES. 63(11)

Many early-onset epilepsies present as developmental and epileptic encephalopathy associated with refractory seizures, altered psychomotor development, and disorganized interictal cortical activity. Abnormal upregulation of specific N-methyl-d-aspart

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e645c7b7889bd0a157230829ea9c5d9
https://pubmed.ncbi.nlm.nih.gov/36054371

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Akademický článek

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

Autor: Grace E. Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

Publikováno v: Cell Reports, Vol 9, Iss 5, Pp 1661-1672 (2014)

Summary: Disease-causing mutations in ion channels generally alter intrinsic gating properties such as activation, inactivation, and voltage dependence. We examined nine different mutations of the KCNT1 (Slack) Na+-activated K+ channel that give rise

Externí odkaz: https://doaj.org/article/b3b7f5cb5f9248f5b7c8c44c8cac32e9

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