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Neuronal nicotinic acetylcholine receptors: From the genetic analysis to neurological diseases

Biochemical pharmacology, 2008-11, Vol.76 (10), p.1175-1183

2008

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Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

BMC medical genetics, 2018-03, Vol.19 (1), p.45-45, Article 45

2018

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Cutaneous melanoma in Birt–Hogg–Dubé syndrome: part of the clinical spectrum?

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e132-e133

2018

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A Potassium Channel Mutation in Neonatal Human Epilepsy

Science (American Association for the Advancement of Science), 1998-01, Vol.279 (5349), p.403-406

1998

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Benign familial neonatal convulsions: Always benign?

Epilepsy research, 2007-03, Vol.73 (3), p.245-249

2007

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Upstream open reading frames regulate cannabinoid receptor 1 expression under baseline conditions and during cellular stress

Molecular and cellular endocrinology, 2015-01, Vol.399, p.103-109

2015

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Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

Epilepsia (Copenhagen), 1999-09, Vol.40 (9), p.1198-1209

1999

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Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Proceedings of the National Academy of Sciences - PNAS, 2001-10, Vol.98 (21), p.12272-12277

2001

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An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Human molecular genetics, 1997-06, Vol.6 (6), p.943-947

1997

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Annals of neurology, 1999-09, Vol.46 (3), p.305-312

1999

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Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

British journal of pharmacology, 1998-10, Vol.125 (4), p.751-760

1998

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Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever

European journal of pediatrics, 2008-07, Vol.167 (7), p.827-828

2008

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LGI1 : a gene involved in epileptogenesis and glioma progression?

Neurogenetics, 2005-05, Vol.6 (2), p.59-66

2005

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Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy

Epilepsia (Copenhagen), 2000-05, Vol.41 (5), p.529-535

2000

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The new voltage gated potassium channel KCNQ5 and neonatal convulsions

Neuroreport, 2000-06, Vol.11 (9), p.2063-2067

2000

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Expression of nicotinic acetylcholine receptors in Alzheimer’s disease: postmortem investigations and experimental approaches

Behavioural brain research, 2000-08, Vol.113 (1), p.207-215

2000

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Neuronal nicotinic receptors in human epilepsy

European journal of pharmacology, 2000-03, Vol.393 (1), p.243-247

Steinlein, Ortrud K

2000

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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

Neuropediatrics, 2000-02, Vol.31 (1), p.9-12

2000

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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: An Electroclinical Study of a Norwegian Family with Ten Affected Members

Epilepsia (Copenhagen), 1999-01, Vol.40 (1), p.88-92

1999

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Cancer-associated genodermatoses

Hautarzt, 2021-04, Vol.72 (4), p.288-294

2021

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The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

Neuroreport, 1999-04, Vol.10 (6), p.1163-1166

1999

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Idiopathic Epilepsies with a Monogenic Mode of Inheritance

Epilepsia (Copenhagen), 1999-01, Vol.40 (s3), p.9-11

Steinlein, Ortrud K.

1999

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Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

Annals of neurology, 2000-09, Vol.48 (3), p.379-383

2000

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature genetics, 1995-10, Vol.11 (2), p.201-203

1995

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New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies

Clinical genetics, 1998-09, Vol.54 (3), p.169-175

Steinlein, Ortrud K.

1998

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Nervous System
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Headache. Facial Pains. Syncopes. Epilepsia. Intracranial Hypertension. Brain Oedema. Cerebral Palsy
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Neuronal nicotinic acetylcholine receptors: From the genetic analysis to neurological diseases

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

Cutaneous melanoma in Birt–Hogg–Dubé syndrome: part of the clinical spectrum?

A Potassium Channel Mutation in Neonatal Human Epilepsy

Benign familial neonatal convulsions: Always benign?

Upstream open reading frames regulate cannabinoid receptor 1 expression under baseline conditions and during cellular stress

Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever

LGI1 : a gene involved in epileptogenesis and glioma progression?

Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy

The new voltage gated potassium channel KCNQ5 and neonatal convulsions

Expression of nicotinic acetylcholine receptors in Alzheimer’s disease: postmortem investigations and experimental approaches

Neuronal nicotinic receptors in human epilepsy

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: An Electroclinical Study of a Norwegian Family with Ten Affected Members

Cancer-associated genodermatoses

The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

Idiopathic Epilepsies with a Monogenic Mode of Inheritance

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies

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