Maas, Roderick P P W M <br/><br/>
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.  [electronic resource] 

 -  Pediatric neurology  06 2016 
 - 71-75.e1 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1873-5150 
<br/><br/><label>Standard No.: </label>10.1016/j.pediatrneurol.2016.02.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Cerebellar Ataxia--genetics<br/>Child<br/>Child, Preschool<br/>Family<br/>Female<br/>Foot Deformities, Congenital--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Male<br/>Optic Atrophy--genetics<br/>Point Mutation<br/>Reflex, Abnormal--genetics<br/>Sodium-Potassium-Exchanging ATPase--genetics