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Epileptic phenotypes in children with early‐onset mitochondrial diseases
Author(s) -
Matricardi Sara,
Canafoglia Laura,
Ardissone Anna,
Moroni Isabella,
Ragona Francesca,
Ghezzi Daniele,
Lamantea Eleonora,
Nardocci Nardo,
Franceschetti Silvana,
Granata Tiziana
Publication year - 2019
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/ane.13130
Subject(s) - epilepsy , status epilepticus , pediatrics , epileptic spasms , epilepsia partialis continua , medicine , mitochondrial disease , age of onset , seizure types , encephalopathy , disease , west syndrome , epilepsy syndromes , psychiatry , biology , biochemistry , mitochondrial dna , gene
Objectives To determine the prevalence of epilepsy in children with early‐onset mitochondrial diseases (MDs) and to evaluate the epileptic phenotypes and associated features. Materials and Methods Children affected by MD with onset during the first year of life were enrolled. Patients were classified according to their mitochondrial phenotype, and all findings in patients with epilepsy versus patients without were compared. The epileptic features were analyzed. Results The series includes 129 patients (70 females) with median age at disease onset of 3 months. The median time of follow‐up was 5 years. Non‐syndromic mitochondrial encephalopathy and pyruvate dehydrogenase complex deficiency were the main mitochondrial diseases associated with epilepsy ( P < 0.05). Seizures occurred in 48%, and the presence of epilepsy was significantly associated with earlier age at disease onset, presence of perinatal manifestations, and early detection of developmental delay and regression ( P < 0.001). Epileptic encephalopathy (EE) with spasms and EE with prominent focal seizures were the most detected epileptic syndromes (37% and 27.4%). Several seizure types were recorded in 53.2%, with the unusual association of generalized and focal epileptic pattern. Disabling epilepsy was detected in 63% and was associated with early seizure onset, presence of several seizure types, epileptic syndrome featuring EE, and the recurrence of episodes of status epilepticus and epilepsia partialis continua ( P < 0.05). Conclusions Epilepsy in children with early‐onset MD may be a presenting or a prominent symptom in a multisystemic clinical presentation. Epilepsy‐related factors could determine a worst seizure outcome, leading to a more severe burned of the disease.