Gunes Altiokka Uzun

Introduction: Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant disease characterized by cortical tremor, myoclonus and epileptic seizures. In this article, we aimed to review the main clinical characteristics,...

Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder characterised by significantly impaired intellectual and adaptive functioning. ID is commonly syndromic and associated with developmental, metabolic and/or neurological findings. Autosomal...

Neurological complications of inflammatory bowel diseases (i.e., ulcerative colitis and Crohn's disease) can be summarized as a combination of neuromuscular manifestations, cerebrovascular and demyelinating diseases that can be seen in...

Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor...

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is an autosomal dominant epileptic syndrome characterized by focal seizures with auditory or aphasic symptoms. The same phenotype is also observed in a...

A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined...

Idiopathic intracranial hypertension (IIH) is a syndrome characterized by increased intracranial pressure of unknown cause, leading to severe headache, papilledema and visual disturbances. Its former name, pseudotumor cerebri, has gained...