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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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The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

Neuroscience letters, 2009-04, Vol.453 (3), p.162-165

2009

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Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function

Neuroscience, 2007-08, Vol.148 (1), p.164-174

2007

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Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Epilepsy research, 2010-05, Vol.89 (2), p.286-294

2010

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Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Nature genetics, 1995-05, Vol.10 (1), p.117-118

1995

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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

European journal of paediatric neurology, 2017-06, Vol.21, p.e194-e194

2017

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Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

American journal of human genetics, 1998-10, Vol.63 (4), p.1108-1116

1998

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Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

Neuron (Cambridge, Mass.), 1996, Vol.16 (1), p.77-87

1996

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Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Neurology, 2010-08, Vol.75 (5), p.432

2010

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Motor cortex localization using functional MRI and transcranial magnetic stimulation

Neurology, 1999-10, Vol.53 (7), p.1462

1999

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The core network in absence epilepsy. Differences in cortical and thalamic BOLD response

Neurology, 2010-09, Vol.75 (10), p.904

2010

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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

American journal of neuroradiology : AJNR, 2022-11, Vol.43 (11), p.1660-1666

2022

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De novo SCN1A mutations in migrating partial seizures of infancy

Neurology, 2011-07, Vol.77 (4), p.380

2011

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A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

Neurology, 2011-04, Vol.76 (16), p.1436

2011

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Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

European journal of medical genetics, 2022-09, Vol.65 (9), p.104551, Article 104551

2022

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Neurology, 2011-04, Vol.76 (17), p.1514

2011

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Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities

American journal of neuroradiology : AJNR, 2013-02, Vol.34 (2), p.432-438

2013

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ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene

European journal of paediatric neurology, 2007, Vol.11, p.33-33

2007

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Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

The Lancet (British edition), 1994-02, Vol.343 (8896), p.515-517

1994

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A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2

American journal of human genetics, 2000-02, Vol.66 (2), p.698-701

2000

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Occipital epilepsies: identification of specific and newly recognized syndromes11Edited by Hans E. Grossniklaus, MD

American journal of ophthalmology, 2003-10, Vol.136 (4), p.785

2003

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Revidierte Terminologie und Konzepte zur Einteilung von epileptischen Anfällen und Epilepsien

Clinical Epileptology, 2010-11, Vol.23 (4), p.227-237

2010

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Occipital epilepsies: identification of specific and newly recognized syndromes

American journal of ophthalmology, 2003-10, Vol.136 (4), p.785-785

2003

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Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-04, Vol.134B (1), p.104-109

2005

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Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

American journal of human genetics, 2001-04, Vol.68 (4), p.859-865

2001

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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

The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function

Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Motor cortex localization using functional MRI and transcranial magnetic stimulation

The core network in absence epilepsy. Differences in cortical and thalamic BOLD response

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

De novo SCN1A mutations in migrating partial seizures of infancy

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities

ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2

Occipital epilepsies: identification of specific and newly recognized syndromes11Edited by Hans E. Grossniklaus, MD

Revidierte Terminologie und Konzepte zur Einteilung von epileptischen Anfällen und Epilepsien

Occipital epilepsies: identification of specific and newly recognized syndromes

Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

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