Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1 encoding the α1 subunit and GLRB encoding the β subunit. The third, SLC6A5, encodes the cognate presynaptic glycine transporter 2. Ninety-seve...
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The following protocol contains medical necessity criteria that apply for this service. The criteria are also applicable to services provided in the local Medicare Advantage operating area for those members, unless separate Medicare Advantage criteria are indicated. If the criteria are not met, reimbursement will be denied and the patient cannot be billed. Please note that payment for covered s...
متن کاملClinical and genetic investigation of 17 Japanese patients with hyperekplexia.
AIM The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. METHOD Clinical courses, responses to antiepileptic drugs, outcomes, and genetic testing were investigated in 17 Japanese patients (nine males, eight females, median age 1y, range birth-45y) with hyperekplexia. RESULTS In all patients, muscle stiffness and startle response...
متن کاملDevelopmental Delay
Introduction Developmental delay is a problem not infrequently encountered 1%-3% of all children are globally developmentally delayed 16% of all children have learning difficulties, and other developmental and behavioral problems Only 20%-30% are detected prior to school entry Thus, routine screening is recommended as part of health maintenance visits Introduction Low-frequency, high-morbidity ...
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A 6-year-old girl of Irish, English, and French ancestry was referred to a pediatric neurologist for evaluation of developmental delay. She presented with expressive language delay with disarticulation. She did not speak in phrases until age 3, and formal testing revealed a language equivalent of 3 years 4 months when she was 5 years 6 months old (Clinical Evaluation of Language Fundamentals–Pr...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2013
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-27-11-7