Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. [electronic resource]
- American journal of medical genetics. Part A Nov 2010
- 2908-11 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.33692 doi
Adolescent Base Pairing Child Chromosome Deletion Chromosomes, Human, Pair 15--genetics Family Fatal Outcome Heterozygote Homozygote Humans Infant Male Muscle Hypotonia--complications Receptors, Nicotinic--genetics Seizures--complications alpha7 Nicotinic Acetylcholine Receptor