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Standardizing a method for functional assessment of neural networks in brain organoids

Journal of neuroscience methods, 2024-09, Vol.409, p.110178, Article 110178

2024

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Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Journal of neurology, 2016-02, Vol.263 (2), p.334-343

2016

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Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

Stem cell research, 2023-09, Vol.71, p.103179, Article 103179

2023

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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

Neurology, 2010-10, Vol.75 (16), p.1454-1458

2010

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Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Neurology, 2011-09, Vol.77 (10), p.959-964

2011

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C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

The Journal of physiology, 2003-04, Vol.548 (2), p.353-360

2003

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V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function

Clinical neurophysiology, 2015-08, Vol.126 (8), p.e80-e80

2015

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Nervous system KV7 disorders: breakdown of a subthreshold brake

The Journal of physiology, 2008-04, Vol.586 (7), p.1791-1801

2008

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The New Anticonvulsant Retigabine Favors Voltage-Dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

Molecular pharmacology, 2005-04, Vol.67 (4), p.1009-1017

2005

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Brain (London, England : 1878), 2008-07, Vol.131 (7), p.1831-1844

2008

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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

Nature genetics, 2003-04, Vol.33 (4), p.527-532

2003

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A War on Terror?: The European Stance on a New Threat, Changing Laws and Human Rights Implications

1, 2009

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Genetic and Pharmacological Studies Reveal Acid Sensing Ion Channel 1a as a Novel Therapeutic Target Against Cardiac Ischaemia-Reperfusion Injury

Heart, lung & circulation, 2021, Vol.30, p.S90-S90

2021

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Ionenkanalerkrankungen des Gehirns – monogene Epilepsien

Medizinische Genetik, 2013-12, Vol.102 (4), p.431-439

2013

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Genetische Aspekte bei idiopathischen fokalen Epilepsien

Clinical Epileptology, 2011-05, Vol.24 (2), p.93-99

2011

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Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

The European journal of neuroscience, 2005-07, Vol.22 (1), p.10-20

2005

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Mechanisms of genetic epilepsies

Neuroforum, 2013-06, Vol.4 (2), p.23-30

2013

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A mutation in the SCN2A gene associated with BFNIS leads to seizures and behavioral impairment in a mouse model

Neuropediatrics, 2013, Vol.44 (2)

2013

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Ionenkanalerkrankungen des Gehirns – monogene Epilepsien

Medizinische Genetik, 2013-12, Vol.25 (4), p.431-439

2013

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Genetics and differenzial developmental expression of the Na+ channel gene SCN2A reveal molecular correlates for early-onset (neonatal-infantile) seizures and late-onset episodic ataxia, myoclonus and pain

Aktuelle Neurologie, 2009, Vol.36 (S 02)

2009

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Molecular analysis of a mutation in the S5-H5 linker of the KCNQ2 K+ channel causing neonatal convulsions

Aktuelle Neurologie, 2006, Vol.33 (S 1)

2006

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Functional analysis of the A322D mutation in the GABA(A) receptor alpha1 subunit associated with juvenile myoclonic epilepsy

Aktuelle Neurologie, 2004, Vol.31 (S 1)

2004

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Terrorism and the Internet: New Threats Posed by Cyberterrorism and Terrorist Use of the Internet

A War on Terror?, 2010, p.51-78

2010

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The European Union as an Actor in the Fight Against Terrorism

A War on Terror?, 2010, p.107-170

2010

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Biophysikalische Eigenschaften einer T-Typ Kalziumkanal-Mutation in einer Familie mit idiopathisch generalisierter Epilepsie

Aktuelle Neurologie, 2009, Vol.36 (S 02)

2009

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Standardizing a method for functional assessment of neural networks in brain organoids

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function

Nervous system KV7 disorders: breakdown of a subthreshold brake

The New Anticonvulsant Retigabine Favors Voltage-Dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

A War on Terror?: The European Stance on a New Threat, Changing Laws and Human Rights Implications

Genetic and Pharmacological Studies Reveal Acid Sensing Ion Channel 1a as a Novel Therapeutic Target Against Cardiac Ischaemia-Reperfusion Injury

Ionenkanalerkrankungen des Gehirns – monogene Epilepsien

Genetische Aspekte bei idiopathischen fokalen Epilepsien

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

Mechanisms of genetic epilepsies

A mutation in the SCN2A gene associated with BFNIS leads to seizures and behavioral impairment in a mouse model

Ionenkanalerkrankungen des Gehirns – monogene Epilepsien

Genetics and differenzial developmental expression of the Na+ channel gene SCN2A reveal molecular correlates for early-onset (neonatal-infantile) seizures and late-onset episodic ataxia, myoclonus and pain

Molecular analysis of a mutation in the S5-H5 linker of the KCNQ2 K+ channel causing neonatal convulsions

Functional analysis of the A322D mutation in the GABA(A) receptor alpha1 subunit associated with juvenile myoclonic epilepsy

Terrorism and the Internet: New Threats Posed by Cyberterrorism and Terrorist Use of the Internet

The European Union as an Actor in the Fight Against Terrorism

Biophysikalische Eigenschaften einer T-Typ Kalziumkanal-Mutation in einer Familie mit idiopathisch generalisierter Epilepsie

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