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Characterization of Novel CACNA1A Splice Variants by RNA‐sequencing in Patients with Episodic or Congenital Ataxia

Florence Riant,Lydie Burglen,Michaelle Corpechot, Julien Robert,Alexandra Durr,Guilhem Sole,Florence Petit,Cecile Freihuber, Olivier De Marco,Catherine Sarret,Giovanni Castelnovo,Francoise Devillard,Alexandra Afenjar,Benedicte Heron,Elisabeth Tournier Lasserve

Clinical Genetics（2023）

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关键词
CACNA1A,congenital ataxia,episodic ataxia,genetic diagnosis,RNA analysis,splicing defect
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