Work

KCND1-Related XLID

Year: 2026

Type: book-chapter

Abstract: This chapter provides pictures and clinical details of KCND1-Related XLID, an XLID with onset of developmental or behavioral signs in infancy or childhood. Speech delay occurs more frequently than motor milestone delay. Cognitive function varies from severe impairment to average. Over half of cases have behavioral signs in the form of autism spectrum disorder, tics, attention-deficit/hyperactivity disorder, anxiety, and poor social skills. One-third have seizures of variable types. Growth impairment is unusual but may affect all growth parameters. The responsible gene encodes the alpha subunit of a voltage-gated potassium channel. No craniofacial dysmorphism has been described except microcephaly in a minority of cases.

DOI: 10.1093/med/9780197809020.003.0076

Authors: Charles E. Schwartz, Roger E. Stevenson, Tao Wang

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

OpenAlex ID: W7155487767

FWCI:

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Related to: 10