Favorable response to ketogenic diet therapy in a patient with <i>DYNC1H1</i>-related epilepsy.

ABSTRACT: Dynein Cytoplasmic 1 Heavy chain 1 (DYNC1H1)-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments. To date, there is no specific epilepsy treatment that is particularly effecti

SUBMITTER: Phitsanuwong C 

PROVIDER: S-EPMC11743897 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature