RGD Reference Report - POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. - Rat Genome Database

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POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Authors: Engelsen, BA  Tzoulis, C  Karlsen, B  Lillebo, A  Laegreid, LM  Aasly, J  Zeviani, M  Bindoff, LA 
Citation: Engelsen BA, etal., Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30.
RGD ID: 8694298
Pubmed: PMID:18238797   (View Abstract at PubMed)
DOI: DOI:10.1093/brain/awn007   (Journal Full-text)

The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time. Irrespective of genotype, patients developed an epileptic syndrome with initial features of occipital lobe epilepsy. Occipital seizure phenomena included flickering coloured light, sometimes persisting for weeks, months or even years, ictal visual loss, horizontal/vertical nystagmus or oculoclonus, dysmorphopsia, micro-/macropsia and palinopsia. Most patients developed simple partial seizure phenomena with motor symptoms suggesting frontal lobe seizure initiation or spread. Simple and complex partial seizures, clonic- and/or myoclonic seizures with epilepsia partialis continua and frequent convulsive status epilepticus were observed in this syndrome that appears to be a symptomatic and secondary generalized or multifocal epilepsy with focal occipital predilection. The mean age of seizure presentation was 18.4 years (6-58 years). All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
POLGHumanepilepsy  IAGP DNA:missense mutations:cds:p.A467T,p.W748S(human)RGD 
PolgRatepilepsy  ISOPOLG (Homo sapiens)DNA:missense mutations:cds:p.A467T,p.W748S(human)RGD 
PolgMouseepilepsy  ISOPOLG (Homo sapiens)DNA:missense mutations:cds:p.A467T,p.W748S(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Polg  (DNA polymerase gamma, catalytic subunit)

Genes (Mus musculus)
Polg  (polymerase (DNA directed), gamma)

Genes (Homo sapiens)
POLG  (DNA polymerase gamma, catalytic subunit)


Additional Information