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Copy number variation plays an important role in clinical epilepsy
TLDR
To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center, a large number of patients are diagnosed with epilepsy.
An expert opinion on methylphenidate treatment for attention deficit hyperactivity disorder in pediatric patients with epilepsy
TLDR
The chemistry and mechanisms of action of MPH are reviewed, as well as preclinical, premarketing clinical trials and postmarketing data relevant to its use in patients with ADHD and epilepsy are reviewed.
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita
TLDR
It is suggested that when the clinical evaluation indicates a specific syndromic, developmental, or exogenous cause, NCS/EMG and muscle biopsy are not helpful and may not need to be performed, but when the history, examination, and genetic evaluation are unrevealing, N CS/ EMG and Muscle biopsy together provide valuable diagnostic information.
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
TLDR
FRIES is a rare epilepsy syndrome of unclear etiology in which children, usually of school age, suddenly develop very frequent seizures after a mild febrile illness.
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
TLDR
A child with onset of command auditory hallucinations and behavioral regression at 6 yr of age is described in the context of longer standing selective mutism, aggression, and mild motor delays and a previously unreported heterozygous de novo mutation c.385G>A in ATP1A3 is revealed.
Febrile seizures: emergency medicine perspective
TLDR
Clinical acumen remains the most important tool for identifying children with seizures who are candidates for a more elaborate diagnostic evaluation and evidence and guidelines regarding candidates for an emergent out-of-hospital diazepam treatment are lacking.
Concussion: A Global Perspective.
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