BACKGROUND
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations or deletions in the survival motor neuron 1 (SMN) gene, with disease severity influenced by SMN2 copy number. Nusinersen, an antisense oligonucleotide therapy, has emerged as an effective treatment option. This...
Gulshan Aliyeva, Sezan Mergen Kilic, Z. Yapıcı et al.· Brain & development (Tokyo....· 0 citations
This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.
M. Kılıç, P. Dušek, Ibrahim Kamaci et al.· Annals of Clinical and Trans...· 0 citations
OBJECTIVE
Photosensitivity is a well-recognized phenomenon in epilepsy, yet its association with absence seizures (AS) is rarely described and poorly understood. This study aims to characterize the clinical and electrophysiological features of patients exhibiting AS induced by photic stimulation (PS) and evaluate their...
Rodi Sari Polat, Ozgu Kizek, PinarTopaloğlu et al.· Seizure· 0 citations
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