Assuming sca is required, the following 59 results were found.
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Benign familial neonatal epilepsyhttps://cnke.org/articles/266
with generally good prognosis is important References 1. Hirsch E, Velez A, Sellal F, Maton B, Grinspan A, Malafosse A, Marescaux C. Electroclinical signs of benign neonatal familial convulsions. Ann Neurol. 1993 Dec;34(6):835-41. doi:...
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- Author: Editor
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The History of Rett Syndromehttps://cnke.org/historical-vignettes/162
children. Dr. Rett’s profound empathy for children with disabilities guided his research. Working in a post-war medical landscape, he was driven by a desire to uncover the underlying causes of unexplained neurodevelopmental conditions. His meticulous...
- Type: Article
- Author: Biju Hameed
- Category: Historical Vignettes
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Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164
advancements in actigraphy, DLMO measurement, and genetic analyses have transformed the diagnostic and therapeutic landscape for CRSWDs. Emerging technologies such as wearable devices with integrated light sensors and machine learning algorithms for...
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Ataxia Telangiectasia (AT)https://cnke.org/articles/151
Cerebellar Degeneration: Starts at 6–18 months; ataxia prominent in toddler years. Symptoms: Truncal/gait ataxia, scanning speech, dysphagia. Wheelchair dependence by ~10 years. Movement Disorders: Chorea, dystonia, tremors, and myoclonus. Cognitive...
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MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360
module include MED6, MED8, MED11, MED17, MED18, MED20, and MED22. Middle Module: The middle module serves as a structural scaffold, supporting interactions between other modules and the RNA polymerase II complex. Important subunits in this module are...
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- Author: Editor
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Gilles De La Tourette Syndromehttps://cnke.org/articles/260
The genetic basis of Gilles de la Tourette Syndrome [Review]. Neurosci & Biobehav Rev 37: 1026–39. Piacentini J, Woods DW, Scahill L, et al. (2010) Behavior therapy for children with Tourette Disorder: a randomized controlled trial. JAMA 303(19):...
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- Author: Editor
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Papillodemahttps://cnke.org/articles/179
showing enlarged blind spot in both eyes. Differential Diagnosis Pseudopapilloedema: Optic disc drusen (autofluorescence, B-scan ultrasonography, or OCT). Optic Neuritis: Pain with eye movements, RAPD, visual loss. Hypertensive Retinopathy: Associated...
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- Author: Editor
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Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270
literature. J Child Neurol 24: 155–60 Sanner G, Bergström B (1979) Benign paroxysmal torticollis in infancy. Acta Paediatr Scand 68: 219–23 Snyder CH (1969) Paroxysmal torticollis in infancy. A possible form of labyrinthitis. Am J Dis Child 117: 458–60...
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Migraine in childhoodhttps://cnke.org/articles/358
Findings: Esparham et al., 2021: Decreased headache intensity by an average of 2.55 + 2.48 points on the numeric rating pain scale in 7-18-year-old migraine patients (P
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- Author: Editor
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Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148
not be crushed, chewed, or divided. Clinical Efficacy Studies and Trials: Demonstrated significant improvement in ADHD Rating Scale (ADHD-RS) scores. Comparable or superior efficacy to other stimulant medications. Long-term trials show sustained symptom...
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- Author: Editor
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Kufor-Rakeb Syndrome https://cnke.org/articles/255
Oculogyric crises Episodes of aggression and psychosis, including frank hallucinations Imaging and Pathology MRI scans of patients with KRS often reveal generalized atrophy of the cerebrum, cerebellum, and brainstem, as well as progressive atrophy of...
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- Author: Editor
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Aphasia/Dysphasiahttps://cnke.org/articles/249
epileptic encephalopathies like LKS. Sleep VEEG often reveals interictal epileptiform discharges. Neuroimaging: MRI or CT scans help identify strokes, infections, or trauma. Functional Brain Imaging: Evaluates recovery dynamics and hemispheric...
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- Author: Editor CNKE
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Schwartz-Jampel Syndrome (SJS)https://cnke.org/articles/328
The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood,...
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- Author: Editor
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Aicardi-Goutières syndromehttps://cnke.org/articles/175
showing numerous punctuate calcifications within the basal ganglia and the cerebral white matter B, Contrast-enhanced CT scan showing large calcifications in the white matter.Atrophy, microcephaly, and areas of hypoattenuation in the periventricular...
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- Author: Editor
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How to edit this Knowledge Basehttps://cnke.org/about/182
should be short enough to be easily readable but long enough to convey and idea. Short paragraphs allow readers to quickly scan through the content one paragraph at a time. It is also important to keep the sentences short. An optimal line length is...
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- Author: Editor
- Category: About
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CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315
Hypokinetic Dystonia Rigidity Dementia Ophthalmoplegia Rigidity Chorea frequently absent in children 50% motor seizures CT scan: "butterfly" atrophy of caudate and putamen Moderately rapid with death Refsum disease (peroxisomal disease) AR Phytanic acid...
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Zika Virus Infectionhttps://cnke.org/articles/353
neurologist to determine appropriate brain imaging and additional evaluation (e.g., ultrasound, computerized tomography scan, magnetic resonance imaging, and electroencephalogram). Testing for other congenital infections such as syphilis, toxoplasmosis,...
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beyond 12-18 months due to reduced cranial plasticity. Process Custom helmet is made after a detailed 3D cranial scan. Helmet is worn for 23 hours per day, with adjustments made as the infant grows. Average duration of treatment: 3-6 months, depending...
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- Author: Editor
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Repeat Expansionshttps://cnke.org/articles/187
diabetes. Pathogenesis: Impaired transcription due to repeat-induced heterochromatin formation. Spinocerebellar Ataxias (SCA) Multiple subtypes caused by expanded CAG repeats in different genes. Clinical Features: Progressive ataxia, dysarthria, and...
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- Author: Editor CNKE
- Category: Articles