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Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
- Publication Year :
- 2020
-
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 5–92years (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 19years (range, 0.2–68; < 3years in 14/97 (14%), 3–19years in 36/97 (37%), > 19years 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.
- Subjects :
- 0301 basic medicine
Adult
Male
Genotype-phenotype correlation
Pediatrics
medicine.medical_specialty
Mitochondrial Diseases
Adolescent
Cross-sectional study
Multicenter cross-sectional survey
Genotype-phenotype correlations
Gene mutation
03 medical and health sciences
Cellular and Molecular Neuroscience
Epilepsy
Young Adult
0302 clinical medicine
Seizures
Surveys and Questionnaires
Genetics
medicine
Humans
Ictal
Child
Genetics (clinical)
Aged
Retrospective Studies
Aged, 80 and over
Mitochondrial epilepsy
business.industry
Retrospective cohort study
Middle Aged
Management
medicine.disease
Settore MED/26 - NEUROLOGIA
030104 developmental biology
Cross-Sectional Studies
Italy
Child, Preschool
Cohort
Female
Levetiracetam
business
030217 neurology & neurosurgery
Cohort study
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....bb87d78a1ecf362df3c0e3e78ae4a0b2