Παρασκευή 3 Αυγούστου 2018

Specific EEG markers in POLG1 Alpers’ syndrome

Alpers-Huttenlocher syndrome (AHS) is a rare, mitochondrial disease with high mortality.(Cohen and Naviaux 2010) It is characterized by refractory seizures, episodic psychomotor regression, ataxia, cortical blindness and liver failure.(Saneto and Naviaux 2010; Harding 1990) Disease onset is often during childhood, but can range from three months to 36 years of age.(Cohen and Naviaux 2010; Tzoulis et al. 2006) Epilepsy is an important diagnostic factor in AHS and has a focal onset with occipital lobe predeliction.(Engelsen et al.

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