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Publications by Betül Uysal

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

Genetics

2019

English

Related publications

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

English

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

Epilepsia Open

Neurology

2017

English

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

Genetics

2019

English

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

American Journal of Human Genetics

Genetics

2019

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

Genetics

2013

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

English

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics

Genetics

2018

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

English

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

Pediatric Neurology

Child Health

Developmental Neuroscience

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Betül Uysal

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

Related publications

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant