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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research

Literature Commentary
In this section of Journal of Neuro-Ophthalmology, M. Tariq Bhatti, MD and Mark L. Moster, MD will discuss the following 6 articles: 1. Gallina P, Savastano A, Becattini E, Orlandini S, Scollato A, Rizzo S, Carreras G, Di Lorenzo N, Porfirio B. Glaucoma in patients with shunt-treated normal pressure hydrocephalus. J Neurosurg. 2018;129:1078–1084. 2. Pagovich OE, Vo ML, Zhao ZZ, Petropoulos IN, Yuan M, Lertsuwanroj B, Ciralsky J, Lai E, Kiss S, D'Amico DJ, Mezey JG, Malik RA, Crystal RG. Corneal confocal microscopy: neurologic disease biomarker in Friedreich ataxia. Ann Neurol. 2018;84:893–904. 3. Albrecht P, Jansen ...
Source: Journal of Neuro-Ophthalmology - May 21, 2019 Category: Opthalmology Tags: Literature Commentary: June Issue Double Feature Source Type: research