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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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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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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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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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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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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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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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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

American journal of human genetics, 2011-02, Vol.88 (2), p.162-172

2011

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The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

Neurobiology of disease, 2005-12, Vol.20 (3), p.799-804

2005

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Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene

FEBS letters, 2009-05, Vol.583 (10), p.1599-1604

2009

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Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2

The Journal of physiology, 2002-03, Vol.539 (3), p.657-668

2002

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A New Chrna4 Mutation with Low Penetrance in Nocturnal Frontal Lobe Epilepsy

Epilepsia (Copenhagen), 2003-07, Vol.44 (7), p.981-985

2003

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The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

FEBS letters, 2002-05, Vol.519 (1), p.71-76

2002

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Speech‐induced Aphasic Seizures in Epilepsy Caused by LGI1 Mutation

Epilepsia (Copenhagen), 2005-06, Vol.46 (6), p.963-966

2005

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Asymmetry of Long‐latency Auditory Evoked Potentials in LGI1‐related Autosomal Dominant Lateral Temporal Lobe Epilepsy

Epilepsia (Copenhagen), 2005-10, Vol.46 (10), p.1692-1694

2005

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Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p.W260X

Acta dermato-venereologica, 2012-01, Vol.92 (2), p.187-188

2012

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Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders

Molecular biology and evolution, 2005-11, Vol.22 (11), p.2209-2216

2005

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Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K super(+) channel

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

2001

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Familial Temporal Lobe Epilepsy with Aphasic Seizures and Linkage to Chromosome 10q22‐q24

Epilepsia (Copenhagen), 2002-03, Vol.43 (3), p.228-235

2002

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Characterization of human alpha 4 beta 2-nicotinic acetylcholine receptors stably and heterologously expressed in native nicotinic receptor-null SH-EP1 human epithelial cells

Molecular pharmacology, 2003-12, Vol.64 (6), p.1283-1294

2003

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ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

Epilepsia, 2002-10, Vol.43 (10), p.1262-1267

2002

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ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

Epilepsia (Copenhagen), 2002-12, Vol.43 (12), p.1600-1602

2002

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Mammalian Granulocyte-Macrophage Colony-Stimulating Factor Receptor Expressed in Primary Avian Hematopoietic Progenitors: Lineage-Specific Regulation of Proliferation and Differentiation

The Journal of cell biology, 1998-05, Vol.141 (4), p.1041-1051

1998

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

A Potassium Channel Mutation in Neonatal Human Epilepsy

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

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

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

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

Idiopathic Epilepsies with a Monogenic Mode of Inheritance

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene

Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2

A New Chrna4 Mutation with Low Penetrance in Nocturnal Frontal Lobe Epilepsy

The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

Speech‐induced Aphasic Seizures in Epilepsy Caused by LGI1 Mutation

Asymmetry of Long‐latency Auditory Evoked Potentials in LGI1‐related Autosomal Dominant Lateral Temporal Lobe Epilepsy

Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p.W260X

Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K super(+) channel

Familial Temporal Lobe Epilepsy with Aphasic Seizures and Linkage to Chromosome 10q22‐q24

Characterization of human alpha 4 beta 2-nicotinic acetylcholine receptors stably and heterologously expressed in native nicotinic receptor-null SH-EP1 human epithelial cells

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

Mammalian Granulocyte-Macrophage Colony-Stimulating Factor Receptor Expressed in Primary Avian Hematopoietic Progenitors: Lineage-Specific Regulation of Proliferation and Differentiation

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