Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
- 3 January 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in neurogenetics
- Vol. 21 (2), 87-96
- https://doi.org/10.1007/s10048-019-00601-5
Abstract
Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative Network of Mitochondrial Diseases” (NICNMD) database (1467 patients included since 2010 to December 2016). We collected information on age at epilepsy onset, seizure type and frequency, genetic findings, and antiepileptic drugs (AEDs). At the time of our survey, 147/1467 (10%) patients in the NICNMD database had epilepsy. Complete information was available only for 98 patients, 52 males and 46 females, aged 5–92 years (mean age 40.4 ± 18.4; 14/98 children/teenagers and 84 adults). Epilepsy was the presenting feature of MD in 46/98 (47%) individuals, with onset at a median age of 19 years (range, 0.2–68; < 3 years in 14/97 (14%), 3–19 years in 36/97 (37%), > 19 years in 47/97 (49%)). Moreover, 91/98 patients (93%) displayed multiple seizures, with daily or weekly frequency in 25/91 (28%). Interictal EEG was abnormal in 70/78 (90%) patients, displaying abnormal background (47/70; 67%) and/or interictal paroxysms (53/70; 76%). Eighty of 90 patients (89%) displayed a 50–100% reduction of seizures on AEDs; levetiracetam was the most commonly used. Forty-one patients (42%) carried the m.3243A>G mutation, 16 (16%) the m.8344A>G, and 9 (9%) nuclear DNA (nDNA) mutations. Individuals with early-onset seizures mainly carried nDNA mutations and had a more severe epilepsy phenotype, higher seizure frequency, and disorganized background EEG activity. A better definition of epilepsy in MDs may foster the diagnostic workup, management, and treatment of affected patients, and allow more homogeneous patient stratification.Keywords
Funding Information
- Ministero della Salute (Mitonext, MITO-OMICS, Ricerca 5X1000)
This publication has 31 references indexed in Scilit:
- Presentation of adult mitochondrial epilepsySeizure, 2013
- Mitochondrial diseases and epilepsyEpilepsia, 2012
- Epileptic Seizures in Infants and Children With Mitochondrial DiseasesPediatric Neurology, 2011
- Epileptic phenotypes in children with respiratory chain disordersEpilepsia, 2010
- Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditionsEpilepsia, 2008
- Epilepsy and Respiratory Chain Defects in Children with Mitochondrial EncephalopathiesNeuropediatrics, 2008
- Mitochondrial diseases: a nosological updateActa Neurologica Scandinavica, 2007
- Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex DefectsEpilepsia, 2006
- Antimyoclonic effect of levetiracetam in MERRF syndromeJournal of the Neurological Sciences, 2006
- Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlapBrain & Development, 1996