Research Aim: The aim of this study is to focus on the main neurophysiological aspects of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) and the current pharmacological treatment used for the management of hyperactivity and attention deficits in children aged 6-20 years with a diagnosis of ASD, not associated with other genetic or epileptic disorders, such as Fragile X Syndrome (FXS), Tuberous Sclerosis, Kleefstra Syndrome or Angelman Syndrome.
Methods: This mini review was conducted according to the .I.
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation.
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