Husheng Wu

TL;DR: It is established that this is a distinctive syndrome, distinguishable from poliomyelitis and demyelinating Guillain‐Barré syndrome, which is marked by rapidly progressive ascending tetraparesis, often with respiratory failure, but without fever, systemic illness, or sensory involvement.

TL;DR: Direct sequencing of exons 3 to 35 and the exon–intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China to suggest that CAC NA1H might be an important susceptibility gene involved in the pathogenesis of Childhood absence epilepsy.

TL;DR: The distinctive epidemiological, clinical, and neurophysiological characteristics of this illness suggest that the disorder is different from both Guillain-Barré syndrome and poliomyelitis, and the hypothesis that the Disorder is a reversible distal motor nerve terminal or anterior horn cell lesion is supported.

TL;DR: The major phenotypes of affected members in the 23 GEFS+ families exhibited FS and FS+, whereas rare phenotypes afebrile generalized tonic-clonic seizures (AGTCS), myoclonic-astatic epilepsy (MAE), and partial seizures were also observed.

TL;DR: Data support the hypothesis that CACNA1H is an important susceptibility gene for CAE in the Chinese Han population and indicate that a SNP-52037C>T in intron11 was significant in association with CAE.