Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.
Endris
Volker
V
Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Hackmann
Karl
K
Neuhann
Teresa M
TM
Grasshoff
Ute
U
Bonin
Michael
M
Haug
Ulrich
U
Hahn
Gabriele
G
Schallner
Jens C
JC
Schröck
Evelin
E
Tinschert
Sigrid
S
Rappold
Gudrun
G
Moog
Ute
U
D000293:Adolescent; D020029:Base Pairing; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005190:Family; D017809:Fatal Outcome; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications* / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics*; D012640:Seizures / Q000150:complications* / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor