Concepedia

Status epilepticus in children with Alpers’ disease caused by<i>POLG1</i>mutations: EEG and MRI features

Nicole I. Wolf, Shamima Rahman, Bernhard Schmitt, Jan‐Willem Taanman, Andrew Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, D. Rating, Thomas Bast

Epilepsia · 2008 · 146 citations · 31 references

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Abstract

Alpers' disease is an important differential diagnosis in childhood refractory convulsive status epilepticus. Its EEG hallmark of RHADS is important for timely diagnosis, management, and counseling.

References

31

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<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen · Annals of Neurology · 2004 · 456 citations

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase   gene

Rita Horváth · Brain · 2006 · 396 citations

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen et al. · The American Journal of Human Genetics · 2005 · 305 citations · Full text

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