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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. Le Roux M, et al. Eur J Paediatr Neurol. 2021 Jul;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Epub 2021 May 26. Eur J Paediatr Neurol. 2021. PMID: 34102571 Free article.
More than half of the patients had refractory epilepsy. CACNA1A mutation should be evoked in front of 2 main electro-clinical phenotypes that are associated with permanent cerebellar dysfunction and moderate to severe GDD/ID. The first one, found in all 5 patients w …
More than half of the patients had refractory epilepsy. CACNA1A mutation should be evoked in front of 2 main electro-clinical …
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. ...Here, we address the elements differentiating neonat …
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom o …
Variability in Preferred Management of Electrographic Seizures in Neonatal Hypoxic Ischemic Encephalopathy.
McNally MA, Hartman AL. McNally MA, et al. Pediatr Neurol. 2017 Dec;77:37-41. doi: 10.1016/j.pediatrneurol.2017.06.006. Epub 2017 Jun 15. Pediatr Neurol. 2017. PMID: 28982530
Seventy-seven percent of providers would treat 20 seconds or less of electrographic seizure activity. In a neonate with mild HIE and an electrographic-only seizure, there was no agreement among providers regarding whether to start maintenance therapy i …
Seventy-seven percent of providers would treat 20 seconds or less of electrographic seizure activity. In a neonate with mild H …
The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2).
Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, Oguni H, Rubboli G, Tatum W, Thomas P, Trinka E, Vignatelli L, Moshé SL. Koutroumanidis M, et al. Epileptic Disord. 2017 Dec 1;19(4):385-437. doi: 10.1684/epd.2017.0952. Epileptic Disord. 2017. PMID: 29350182
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical …
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Defin …