Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

@article{Benninger2016SeizuresAP,
  title={Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.},
  author={Felix Benninger and Zaid Afawi and Amos D. Korczyn and Karen L. Oliver and Manuela Pendziwiat and Masayuki Nakamura and Akira Sano and Ingo Helbig and Samuel F. Berkovic and Ilan Blatt},
  journal={Epilepsia},
  year={2016},
  volume={57 4},
  pages={
          549-56
        }
}
OBJECTIVE The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. METHODS Genetic test results, clinical description, magnetic resonance imaging (MRI), and electroencephalography (EEG), as well as laboratory results are summarized. RESULTS ChAc is a rare genetic disorder characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric… CONTINUE READING
BETA
2
Twitter Mentions

References

Publications referenced by this paper.
SHOWING 1-10 OF 26 REFERENCES

Similar Papers

Loading similar papers…