Sinan Akbas
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 8 publications
Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: May 04, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.
Journal: Journal of neuromuscular diseases
Published: March 29, 2026
Rippling muscle disease due to a CAV3 mutation with myocarditis-like presentation in an adolescent.
Journal: The Turkish journal of pediatrics
Published: December 27, 2025
Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: September 23, 2025
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Journal: Neurogenetics
Published: December 03, 2024
Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.
Journal: Epilepsy & behavior : E&B
Published: February 29, 2024
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Journal: Brain : a journal of neurology
Published: January 27, 2023
Showing 1-8 of 8
Last Updated: 09/26/2026