Concepedia

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes

Nobuaki Matsushima, Shinichi Hirose, Hiromi Iwata, Goryu Fukuma, Minako Yonetani, Chiaki Nagayama, Wakako Hamanaka, Yukiko Matsunaka, Masatoshi Ito, Sunao Kaneko,

Epilepsy Research · 2002 · 67 citations · 16 references

Concepts

MedicineNeurobiologyNeuroscienceEpilepsyMolecular NeurobiologyMolecular NeuroscienceCholinergic PharmacologyGenetic EpilepsiesNeurotransmissionNeurotransmitter ReceptorsReceptor Signaling In NeuronsSynaptic TransmissionFrontal Lobe Epilepsy SyndromesGenetic Causes Of EpilepsyNicotinic Acetylcholine Receptor MutationsNicotinic Receptor DesensitizationNicotinic Receptor Pharmacology

References

16

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Ortrud K. Steinlein, John C. Mulley, Peter Propping et al. · Nature Genetics · 1995 · 1.1K citations

Life Sciences, Neurology, Neuroscience +12

Acetylcholine receptor channel imaged in the open state

Nigel Unwin · Nature · 1995 · 1K citations

Life Sciences, Biophysics, Neuroscience +14

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A new type of glutamate receptor linked to inositol phospholipid metabolism

Hiroyuki Sugiyama, Isao Ito, Chikara Hirono · Nature · 1987 · 760 citations

Life Sciences, Biochemistry, Neuroscience +16

Autosomal dominant nocturnal frontal lobe epilepsy

Ingrid E. Scheffer, Kailash P. Bhatia, Íscia Lopes‐Cendes et al. · Brain · 1995 · 502 citations

Medicine, Neurology, Psychiatry +17