Ulviyya Guliyeva

Baku, BA, Azerbaijan

Last Updated: 09/26/2026

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Found 18 publications

The role of DHH motifs in PRUNE1 gene on ion channels: A new insight into epilepsy pathogenesis.

The role of DHH motifs in PRUNE1 gene on ion channels: A new insight into epilepsy pathogenesis.

Journal: Epilepsy research

Published: February 04, 2026

The role of DHH motifs in PRUNE1 gene on ion channels: A new insight into epilepsy pathogenesis.

The role of DHH motifs in PRUNE1 gene on ion channels: A new insight into epilepsy pathogenesis.

Journal: Epilepsy research

Published: February 04, 2026

DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies.

DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies.

Journal: Brain : a journal of neurology

Published: September 23, 2025

Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan.

Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan.

Journal: Seizure

Published: February 13, 2025

Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.

Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.

Journal: Journal of community genetics

Published: January 02, 2025

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 19, 2024

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Journal: Nature genetics

Published: November 23, 2024

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Journal: American journal of human genetics

Published: June 18, 2024

Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.

Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.

Journal: Epilepsia open

Published: May 16, 2024

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Journal: Neurology. Genetics

Published: December 07, 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Journal: Clinical genetics

Published: April 14, 2022

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 07, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026