Concepedia

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine

S. Kinder, Christiana Ossig, Miriam Wienecke, Anke Beyer, Maja von der Hagen, Alexander Storch, Martin Smitka

European Journal of Paediatric Neurology · 2014 · 22 citations · 3 references

DOI

Concepts

References

3

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

Pierre Bertholon, Stéphane Chabrier, Florence Riant et al. · Journal of Neurology Neurosurgery & Psychiatry · 2009 · 47 citations

, , +17

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

Julien Jung, Hervé Testard, Elisabeth Tournier‐Lasserve et al. · European Neurology · 2010 · 30 citations

, , +17

The role of regularity and synchrony of cerebellar Purkinje cells for pathological nystagmus

Stefan Glasauer, Christian Rössert, Michael Strupp · Annals of the New York Academy of Sciences · 2011 · 16 citations

, , +17