title: Mitochondrial disorders and epilepsy.
abstract: BACKGROUND
  Mitochondrial respiratory chain defects (RCD) often exhibit multiorgan involvement, affecting mainly tissues with high-energy requirements such as the brain. Epilepsy is frequent during the evolution of mitochondrial disorders (30%) with different presentation in childhood and adulthood in term of type of epilepsy, of efficacy of treatment and also in term of prognosis.
  
  
  BACKGROUND
  Mitochondrial disorders can begin at any age but the diseases with early onset during childhood have generally severe or fatal outcome in few years. Four age-related epileptic phenotypes could be identified in infancy: infantile spasms, refractory or recurrent status epilepticus, epilepsia partialis continua and myoclonic epilepsy. Except for infantile spasms, epilepsy is difficult to control in most cases (95%). In pediatric patients, mitochondrial epilepsy is more frequent due to mutations in nDNA-located than mtDNA-located genes and vice versa in adults. Ketogenic diet could be an interesting alternative treatment in case of recurrent status epilepticus or pharmacoresistant epilepsy.
  
  
  CONCLUSIONS
  Epileptic seizures increase the energy requirements of the metabolically already compromised neurons establishing a vicious cycle resulting in worsening energy failure and neuronal death.
authors.affiliation: Unité de neuropédiatrie, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France; CARAMEL, centre de référence maladies mitochondriales, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France. Electronic address: isabelle.desguerre@nck.aphp.fr.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Unité de neuropédiatrie, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Hully
authors.affiliation: CARAMEL, centre de référence maladies mitochondriales, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.affiliation: Unité de neuropédiatrie, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France; CREER, centre de référence épilepsie de l'enfant rares, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Nabbout
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications; D002648:Child; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018908:Muscle Weakness / Q000150:complications; D009154:Mutation; D010641:Phenotype; D014451:Ubiquinone / Q000172:deficiency
chemical_list: D014451:Ubiquinone; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: Alpers syndrome; Déficit de la chaîne respiratoire; Epilepsy; Ketogen diet; Maladies mitochondriales; Mitochondrial disorders; Respiratory chain deficiency; Régime cétogène; Syndrome d’Alpers; Épilepsie