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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Brain (London, England : 1878), 2017-09, Vol.140 (9), p.2337-2354

2017

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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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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

American journal of human genetics, 2013-11, Vol.93 (5), p.967-975

2013

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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Seizure (London, England), 2024-03, Vol.116, p.51-64

2024

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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

Seizure (London, England), 2024-03, Vol.116, p.126-132

2024

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1684-1697

2022

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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L

Blood transfusion = Trasfusione del sangue, 2017-10, Vol.15 (6), p.548-556

2017

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Lafora Disease: Molecular Etiology

Archives of Epilepsy, 2018-01, Vol.24 (1), p.1-7

Server Caglayan, Hande

2018

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SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS

Seizure (London, England), 2016-07, Vol.39, p.34-43

2016

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Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia open, 2019-09, Vol.4 (3), p.498-503

2019

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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)

European journal of paediatric neurology, 2017-09, Vol.21 (5), p.773-782

2017

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Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families

Epilepsy research, 2012-02, Vol.98 (2), p.273-276

2012

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A Common VWF Exon 28 Haplotype in the Turkish Population

Clinical and applied thrombosis/hemostasis, 2013-09, Vol.19 (5), p.550-556

2013

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

American journal of human genetics, 2015-05, Vol.96 (5), p.808-815

2015

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029

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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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Epilepsia (Copenhagen), 2020-05, Vol.61 (5), p.995-1007

2020

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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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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain (London, England : 1878), 2020-05, Vol.143 (5), p.1447-1461

2020

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Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia (Copenhagen), 2019-04, Vol.60 (4), p.689-706

2019

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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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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

American journal of human genetics, 2019-08, Vol.105 (2), p.267-282

2019

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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

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

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L

Lafora Disease: Molecular Etiology

SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)

Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families

A Common VWF Exon 28 Haplotype in the Turkish Population

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

The phenotypic spectrum of SCN8A encephalopathy

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

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Diagnostic implications of genetic copy number variation in epilepsy plus

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

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

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