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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease christianson syndrome
Comorbidity C0038220|status epilepticus
Sentences 1
PubMedID- 24630051 A novel mutation in the endosomal na+/h+ exchanger nhe6 (slc9a6) causes christianson syndrome with electrical status epilepticus during slow-wave sleep (eses).

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