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Diagnosis, treatment, and follow-up of patients with cerebral amyloid angiopathy-related inflammation.
Cancelloni V, Rufa A, Battisti C, De Stefano N, Mastrocinque E, Garosi G, Venezia D, Chiarotti I, Cerase A. Cancelloni V, et al. Neurol Sci. 2022 Nov;43(11):6381-6387. doi: 10.1007/s10072-022-06299-y. Epub 2022 Aug 5. Neurol Sci. 2022. PMID: 35930182 Free PMC article.
The purpose of this paper is to report a historical retrospective review of clinical-neuroradiological follow-up of two patients with probable CAA-ri and five patients with a reasonably probable suspect of CAA-ri (4 females, 3 males, patient's age at admission: 66-79 years) seen …
The purpose of this paper is to report a historical retrospective review of clinical-neuroradiological follow-up of two patients with probab …
Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.
Cutts A, Savoie H, Hammer MF, Schreiber J, Grayson C, Luzon C, Butterfield N, Pimstone SN, Aycardi E, Harden C, Yonan C, Jen E, Nguyen T, Carmack T, Haubenberger D. Cutts A, et al. Seizure. 2022 Apr;97:50-57. doi: 10.1016/j.seizure.2022.03.008. Epub 2022 Mar 10. Seizure. 2022. PMID: 35325842 Free article.
PURPOSE: SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome characterized by early-onset developmental delay, cognitive impairment, and intractable seizures. SCN8A gene variants are associated with a broad …
PURPOSE: SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome characterized by early-onse …
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR. Xiong H, et al. Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4. Gene. 2012. PMID: 22326530
The onset of clinical symptoms varied from three to ten years old, and they included progressive cognitive and language impairment, and motion retrogradation. All were caught by focal or generalized seizures from one to four years after the onset. ...C …
The onset of clinical symptoms varied from three to ten years old, and they included progressive cognitive and language impairment …