Epilepsy in paediatric patients with Parry-Romberg Syndrome: a review of the literature
ConclusionTo the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40%, and have a significant impact on the quality of life and neurodevelopment of patients.
Publication date: Available online 25 February 2020Source: Biocybernetics and Biomedical EngineeringAuthor(s): S. Thomas George, M.S.P. Subathra, N.J. Sairamya, L. Susmitha, M. Joel Premkumar
Publication date: Available online 25 February 2020Source: Journal of Clinical NeuroscienceAuthor(s): Osmi Hamamoto, Daniela Pretti da Cunha Tirapelli, Fermino Sanches Lizarte Neto, Priscila Freitas-Lima, Fabiano Pinto Saggioro, Mucio Luiz de Assis Cirino, João Alberto Assirati Jr, Luciano Neder Serafini, Tonicarlo Rodrigues Velasco, Américo Ceiki Sakamoto, Carlos Gilberto Carlotti Jr
Publication date: Available online 25 February 2020Source: European Journal of RadiologyAuthor(s): Keran Ma, Xiaonan Zhang, Huiting Zhang, Xu Yan, Ankang Gao, Chengru Song, Shaoyu Wang, Yajun Lian, Jingliang Cheng
In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations. PMID: 32089526 [PubMed - in process]
Conclusion: CAED with impaired language function had significantly increased functional connectivity which may indicate poor differentiation and localization of language centers.
Conclusions: This study highlights the high prevalence of developmental delay in this population of children with WS, with adverse perinatal events being the most common etiology.
Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.
Shivan Kesavan, Bhanudeep Singanamalla, Dangudubiyyam Sri Krishna Sahitya, Arushi Gahlot Saini, Sameer VyasAnnals of Indian Academy of Neurology 2020 23(2):239-241
In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME.