ataxia
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
Heterozygosity for a protein truncation mutation of sodium channel <span class="gene" id="16236810-0-67-72">SCN8A</span> in a patient with cerebellar atrophy, <span class="disease" id="16236810-0-111-117">ataxia</span>, and mental retardation.