Results 161 to 170 of about 54,523 (280)
Developmental Medicine &Child Neurology, EarlyView.This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova +6 more
wiley +1 more source
Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders
Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral +1 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley +1 more source
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Developmental Medicine &Child Neurology, EarlyView.Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. Abstract Aim To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure ...
Angel Aledo‐Serrano +8 more
wiley +1 more source
Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman +9 more
wiley +1 more source
An Australian standard of care for Niemann–Pick disease type C
Internal Medicine Journal, EarlyView.Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan +23 more
wiley +1 more source
Drug Design, Development and Therapy, 2019 Shuai Miao,1,2 Lan Zou,1,2 Guanglei Wang,1,2 Xiuli Wang,1,2 Su Liu,1,2 Mengzhu Shi1,21Jiangsu Province Key Laboratory of Anesthesiology, Xuzhou Medical University, Xuzhou, People’s Republic of China; 2Department of Anesthesiology, The Affiliated ...
Miao S +5 more
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