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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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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-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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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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Lafora Disease: Molecular Etiology

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

Server Caglayan, Hande

2018

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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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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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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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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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Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors

Blood coagulation & fibrinolysis, 2008-07, Vol.19 (5), p.383-388

2008

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine, 2022-10, Vol.84, p.104244-104244, Article 104244

2022

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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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A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC)

Turkish journal of pediatrics, 2007-10, Vol.49 (4), p.385-389

2007

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Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

British journal of haematology, 2003-02, Vol.120 (4), p.656-659

2003

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Double trouble: Duchenne muscular dystrophy and hemophilia

Pediatric blood & cancer, 2013-03, Vol.60 (3), p.525-525

2013

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Presentation of an unusual patient with Lafora disease

Epileptic disorders, 2012-03, Vol.14 (1), p.94-98

2012

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Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

Human mutation, 2011-10, Vol.32 (10), p.E2283-E2293

2011

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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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An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic–clonic seizures

Epilepsia (Copenhagen), 2011-05, Vol.52 (5), p.975-983

2011

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A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients

Turkish journal of haematology, 2014-03, Vol.31 (1), p.17-24

2014

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Double trouble: Duchenne muscular dystrophy and hemophilia

Pediatric blood & cancer, 2013-03, Vol.60 (3), p.525-525

2013

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A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey

Neural regeneration research, 2013-04, Vol.8 (10), p.955-958

2013

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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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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

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

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

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

Lafora Disease: Molecular Etiology

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

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

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

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

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

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

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

A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC)

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

Double trouble: Duchenne muscular dystrophy and hemophilia

Presentation of an unusual patient with Lafora disease

Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

A Common VWF Exon 28 Haplotype in the Turkish Population

An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic–clonic seizures

A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients

Double trouble: Duchenne muscular dystrophy and hemophilia

A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey

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

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