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Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

Epilepsy research, 2014-01, Vol.108 (1), p.109-116

2014

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Structural genomic variation in childhood epilepsies with complex phenotypes

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.896-901

2014

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De novo variants in neurodevelopmental disorders with epilepsy

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053

2018

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3238-3250

2015

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

American journal of human genetics, 2014-10, Vol.95 (4), p.360-370

2014

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Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

Journal of child neurology, 2014-05, Vol.29 (5), p.704-707

2014

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Nature genetics, 2015-04, Vol.47 (4), p.393-399

2015

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Nature communications, 2019-02, Vol.10 (1), p.708-708, Article 708

2019

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American journal of human genetics, 2019-06, Vol.104 (6), p.1060-1072

2019

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

American journal of human genetics, 2017-04, Vol.100 (4), p.676-688

2017

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The Human Phenotype Ontology in 2017

Nucleic acids research, 2017-01, Vol.45 (D1), p.D865

2017

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Nature genetics, 2013-09, Vol.45 (9), p.1067-1072

2013

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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American journal of human genetics, 2018-04, Vol.102 (4), p.557-573

2018

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

American journal of human genetics, 2017-01, Vol.100 (1), p.179-179

2017

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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.894-899

2017

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Atypical Vitamin B 6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

Journal of child neurology, 2014-05, Vol.29 (5), p.704-707

2014

Volltextzugriff (PDF)

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Brain (London, England : 1878), 2016-09, Vol.139 (Pt 9), p.2420-2430

2016

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Human molecular genetics, 2015-04, Vol.24 (8), p.2218-2227

2015

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D966

2014

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Bacterial resistance to CRISPR-Cas antimicrobials

Scientific reports, 2021-08, Vol.11 (1), p.17267-17267, Article 17267

2021

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Directional mast cell degranulation of tumor necrosis factor into blood vessels primes neutrophil extravasation

Immunity (Cambridge, Mass.), 2021-03, Vol.54 (3), p.468-483.e5

2021

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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Neurology, 2015-03, Vol.84 (9), p.951

2015

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Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

Structural genomic variation in childhood epilepsies with complex phenotypes

De novo variants in neurodevelopmental disorders with epilepsy

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

The phenotypic spectrum of SCN8A encephalopathy

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

The Human Phenotype Ontology in 2017

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Atypical Vitamin B 6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Bacterial resistance to CRISPR-Cas antimicrobials

Directional mast cell degranulation of tumor necrosis factor into blood vessels primes neutrophil extravasation

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

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