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