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A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63611-n/a

2024

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Clinical spectrum of SCN1A mutations

Epilepsia (Copenhagen), 2009-05, Vol.50 (s5), p.20-23

2009

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Early and effective treatment of KCNQ2 encephalopathy

Epilepsia (Copenhagen), 2015-05, Vol.56 (5), p.685-691

2015

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The genetics of Dravet syndrome

Epilepsia (Copenhagen), 2011-04, Vol.52 (s2), p.24-29

2011

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Genetic malformations of cortical development

Experimental brain research, 2006-08, Vol.173 (2), p.322-333

2006

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The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

Biochemical pharmacology, 2007-10, Vol.74 (8), p.1308-1314

2007

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Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Frontiers in neurology, 2023-12, Vol.14, p.1284339

2023

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Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

Translational psychiatry, 2024-01, Vol.14 (1), p.65-9, Article 65

2024

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GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.63-63, Article 63

2023

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Novel treatments in epilepsy guided by genetic diagnosis

British journal of clinical pharmacology, 2022-06, Vol.88 (6), p.2539-2551

2022

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Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys

Epilepsia (Copenhagen), 2014-11, Vol.55 (11), p.1748-1753

2014

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Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

Epilepsia (Copenhagen), 2011-02, Vol.52 (2), p.386-392

2011

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CDKL5 gene‐related epileptic encephalopathy: electroclinical findings in the first year of life

Developmental medicine and child neurology, 2011-04, Vol.53 (4), p.354-360

2011

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SCN1A testing for epilepsy: Application in clinical practice

Epilepsia (Copenhagen), 2013-05, Vol.54 (5), p.946-952

2013

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SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Epilepsia (Copenhagen), 2009-07, Vol.50 (7), p.1670-1678

2009

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Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

Brain & development (Tokyo. 1979), 2021-03, Vol.43 (3), p.419-430

2021

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SLC32A1: One More Gene Contributing to the Solution of the Genetic Generalized Epilepsies Mystery

Neurology, 2021-05, Vol.96 (18), p.831-832

2021

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A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

Epilepsia open, 2023-09, Vol.8 (3), p.1142-1150

2023

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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

Epilepsia (Copenhagen), 2006-10, Vol.47 (10), p.1737-1740

2006

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Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

Annals of neurology, 2004-04, Vol.55 (4), p.550-557

2004

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1238-1245

2011

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Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

Epilepsia (Copenhagen), 2019-12, Vol.60 (S3), p.S2-S7

2019

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Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

Neurotherapeutics, 2014-04, Vol.11 (2), p.269-285

2014

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A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis

Clinical spectrum of SCN1A mutations

Early and effective treatment of KCNQ2 encephalopathy

The genetics of Dravet syndrome

Genetic malformations of cortical development

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Novel treatments in epilepsy guided by genetic diagnosis

Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

CDKL5 gene‐related epileptic encephalopathy: electroclinical findings in the first year of life

SCN1A testing for epilepsy: Application in clinical practice

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

SLC32A1: One More Gene Contributing to the Solution of the Genetic Generalized Epilepsies Mystery

A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

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