Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692.

Authors

Volker Endris¹, Karl Hackmann, Teresa M Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele Hahn, Jens C Schallner, Evelin Schröck, Sigrid Tinschert, Gudrun Rappold, Ute Moog

Affiliation

¹ Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

PMID: 20979196
DOI: 10.1002/ajmg.a.33692

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Base Pairing
Child
Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
Family
Fatal Outcome
Heterozygote
Homozygote*
Humans
Infant
Male
Muscle Hypotonia / complications*
Muscle Hypotonia / genetics
Receptors, Nicotinic / genetics*
Seizures / complications*
Seizures / genetics
alpha7 Nicotinic Acetylcholine Receptor

Substances

Chrna7 protein, human
Receptors, Nicotinic
alpha7 Nicotinic Acetylcholine Receptor