Results 91 to 100 of about 49,640 (282)
, 2019 Microcephaly cases ZIKV laboratory-confirmed by qRT-PCR and/or ZIKV-specific IgM (n = 31), microcephaly cases with negative results by qRT-PCR and/or ZIKV-specific IgM (n = 58) and controls without microcephaly (n = 89).
Marli T. Cordeiro (233672) +12 more
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Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.
Microcephaly is a rare neurodevelopmental disorder characterized by reduced skull circumference and brain volume that occurs sporadically in farm animals. We investigated an early-onset neurodegenerative disorder observed in seven lambs of purebred Kerry
Rudd Garces, Gabriela +9 more
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Pyridoxine-dependent seizures and microcephaly
, 2004 Pyridoxine dependency is a rare autosomal-recessive disorder causing intractable seizures in neonates and infants. This case report describes an infant with pyridoxine-dependent seizures with microcephaly and discusses a probable pathogenetic mechanism ...
Tan, HY +7 more
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Epileptic Disorders, EarlyView.Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca +10 more
wiley +1 more source
Diagnostic Algorithm for Microcephaly
, 2013 Investigators from Addenbrooke’s Hospital, Cambridge, UK, provide a diagnostic structure to follow when presented with a child with ...
J Gordon Millichap
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Mutations in
BMC Neurology, 2011 Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif +7 more
doaj +1 more source
KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Epilepsia, EarlyView.Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan +20 more
wiley +1 more source
A positive Zika virus test what does it mean for me? [PDF]
CDC understands that pregnant women may be worried and have questions about Zika virus. A positive test result might cause concerns, but it doesn\ue2\u20ac\u2122t mean your baby will have birth defects.
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