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Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.
Ethical issues policy statement on Huntington's disease molecular genetics predictive testThe recommendations concerning the use of a pre- dictive test for the early detection of Huntington's disease (HD) were drawn up by a committee consist- ing of representatives of the International Huntington Association (IHA) and the World Federation of Neurology (WFN).These were adopted by both organisations at their respective meetings in Van- couver, Canada, on 30 June 1989.
“Every time I go to the dentist, I think about that guy,” researcher says
A mysterious comet from beyond our solar system is giving astronomers a rare glimpse into alien worlds — and it may have formed in a place far colder and stranger than anything around our Sun。 The interstellar visitor, called 3I/ATLAS, contains an astonishingly high amount of “heavy water,” far exceeding anything seen in our own solar system
Researchers at Stanford have developed a compact optical amplifier that dramatically boosts light signals using very little power。 By recycling energy inside a looping resonator, the device achieves strong amplification with minimal noise and wide bandwidth。 Its efficiency and small size mean it could run on batteries and be integrated into consume
A powerful new electromagnetic thruster has taken a major step forward after a successful high-energy test at NASA’s Jet Propulsion Laboratory。 Fueled by lithium vapor and driven by intense magnetic forces, the experimental engine reached record-breaking power levels—far beyond anything currently used in space。 Glowing hotter than molten lava and f
Scientists in Japan have developed a new way to instantly detect elusive quantum “W states,” a major milestone for quantum technology。 The breakthrough could help unlock faster quantum communication, teleportation, and powerful new computing systems
A strange kind of matter that “ticks” forever without energy input has just taken a major leap toward real-world use。 Known as a time crystal, this quantum system repeats its motion endlessly—like a clock that never winds down—and scientists have now managed to connect it to an external device for the first time。 By linking the time crystal to a ti
Astronomers using the James Webb Space Telescope have spotted something that shouldn’t exist—at least not so early in the universe。 A massive galaxy, formed less than 2 billion years after the Big Bang, appears to have no rotation at all, a trait usually seen only in much older, evolved galaxies。 This challenges current theories that young galaxies
NASA’s Curiosity rover had an unexpectedly stubborn Mars souvenir after drilling into a rock nicknamed “Atacama” — the entire chunk ripped loose from the ground and stayed stuck to the rover’s drill。 Engineers watched as Curiosity shook, vibrated, tilted, and spun the drill over several days in an effort to free the rock, while cameras captured the
Dante’s Inferno may have been far more than a religious epic。 New research argues that the 14th-century poet essentially imagined a catastrophic asteroid impact centuries before modern science understood meteors。 In this interpretation, Satan crashes into Earth like a giant cosmic object, blasting through the Southern Hemisphere and reshaping the p
For decades, relaxor ferroelectrics have powered everything from medical ultrasounds to sonar systems, yet their inner atomic structure remained a mystery—until now。 Researchers have finally mapped their three-dimensional structure in unprecedented detail, uncovering hidden patterns in how electric charges are arranged at the nanoscale。 The breakth
A bizarre planetary pairing 190 light-years away is challenging everything astronomers thought they knew about how worlds form。 A “lonely” hot Jupiter — typically found without nearby companions — is sharing its system with a smaller mini-Neptune tucked even closer to the star, a setup once thought nearly impossible
Scientists have pulled off a mind-bending quantum experiment that sounds almost impossible: they showed that tiny metal particles made of thousands of atoms can exist in multiple places at once。 Using advanced laser techniques, researchers at the University of Vienna observed quantum interference in sodium nanoparticles far larger than the kinds of