PURPOSE: Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy. METHODS: From 1990-2006 we collected data about 56 children with RCD (single, n = 24 or multiple, n = 20 mitochondrial complex deficiencies; mtDNA mutation, n = 11; mtDNA depletion n = 10 of 21; and nuclear gene mutation n = 11). Epileptic features were reviewed retrospectively. RESULTS: First seizures were frequently (47 patients, 82.5%) preceded by failure to thrive, psychomotor delay, ataxia, or multisystemic dysfunction. Sixty percent of the patients had several seizure types. Six age-related epilepsy phenotypes could be identified: status epilepticus complicating neonatal multivisceral deficiency (2 patients), neonatal myoclonic encephalopathy (3 patients), infantile spasms (8 patients), refractory or recurrent status epilepticus (21 patients), epilepsia partialis continua (4 patients), and myoclonic epilepsy (18 patients). Except for infantile spasms, epilepsy was difficult to control in most patients (95%). Valproate was administered to 25 patients, one of whom developed acute liver failure 6 days later. Twenty-two patients (45%) died, half of them within 9 months from the onset of epilepsy. DISCUSSION: In RCD, epilepsy is not only difficult to control but its occurrence often indicates a severe turn in the course of the disease. For one-third of the patients, classical biochemical measures failed to reveal any abnormality and RCD could be detected in the liver only.
PURPOSE:Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy. METHODS: From 1990-2006 we collected data about 56 children with RCD (single, n = 24 or multiple, n = 20 mitochondrial complex deficiencies; mtDNA mutation, n = 11; mtDNA depletion n = 10 of 21; and nuclear gene mutation n = 11). Epileptic features were reviewed retrospectively. RESULTS: First seizures were frequently (47 patients, 82.5%) preceded by failure to thrive, psychomotor delay, ataxia, or multisystemic dysfunction. Sixty percent of the patients had several seizure types. Six age-related epilepsy phenotypes could be identified: status epilepticus complicating neonatal multivisceral deficiency (2 patients), neonatal myoclonic encephalopathy (3 patients), infantile spasms (8 patients), refractory or recurrent status epilepticus (21 patients), epilepsia partialis continua (4 patients), and myoclonic epilepsy (18 patients). Except for infantile spasms, epilepsy was difficult to control in most patients (95%). Valproate was administered to 25 patients, one of whom developed acute liver failure 6 days later. Twenty-two patients (45%) died, half of them within 9 months from the onset of epilepsy. DISCUSSION: In RCD, epilepsy is not only difficult to control but its occurrence often indicates a severe turn in the course of the disease. For one-third of the patients, classical biochemical measures failed to reveal any abnormality and RCD could be detected in the liver only.
Authors: Brenda Luna; Sanjiv Bhatia; Changwon Yoo; Quentin Felty; David I Sandberg; Michael Duchowny; Ziad Khatib; Ian Miller; John Ragheb; Jayakar Prasanna; Deodutta Roy Journal: J Mol Neurosci Date: 2014-07-16 Impact factor: 3.444
Authors: Ortal Barel; May Christine V Malicdan; Bruria Ben-Zeev; Judith Kandel; Hadass Pri-Chen; Joshi Stephen; Inês G Castro; Jeremy Metz; Osama Atawa; Sharon Moshkovitz; Esther Ganelin; Iris Barshack; Sylvie Polak-Charcon; Dvora Nass; Dina Marek-Yagel; Ninette Amariglio; Nechama Shalva; Thierry Vilboux; Carlos Ferreira; Ben Pode-Shakked; Gali Heimer; Chen Hoffmann; Tal Yardeni; Andreea Nissenkorn; Camila Avivi; Eran Eyal; Nitzan Kol; Efrat Glick Saar; Douglas C Wallace; William A Gahl; Gideon Rechavi; Michael Schrader; David M Eckmann; Yair Anikster Journal: Brain Date: 2017-03-01 Impact factor: 13.501
Authors: Ali Abdullah Alfaiz; Verena Müller; Nadia Boutry-Kryza; Dorothée Ville; Nicolas Guex; Julitta de Bellescize; Clotilde Rivier; Audrey Labalme; Vincent des Portes; Patrick Edery; Marianne Till; Ioannis Xenarios; Damien Sanlaville; Johannes M Herrmann; Gaétan Lesca; Alexandre Reymond Journal: Eur J Hum Genet Date: 2015-10-21 Impact factor: 4.246