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Quoted phrase not found in phrase index: "Myoclonus, intractable, neonatal"
Page 1
Hot-spot KIF5A mutations cause familial ALS.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated w …
Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable …
Childhood-onset epilepsy associated with polymicrogyria.
Ohtsuka Y, Tanaka A, Kobayashi K, Ohta H, Abiru K, Nakano K, Oka E. Ohtsuka Y, et al. Brain Dev. 2002 Dec;24(8):758-65. doi: 10.1016/s0387-7604(02)00099-2. Brain Dev. 2002. PMID: 12453599
The other six patients had only localization-related epilepsy throughout their clinical course. Patients with PMG in both hemispheres, and localized PMG in one hemisphere associated with other lesions tended to have early-onset intractable seizures, especially infan …
The other six patients had only localization-related epilepsy throughout their clinical course. Patients with PMG in both hemispheres …
Long-term prognosis for symptomatic (secondarily) generalized epilepsies: a population-based study.
Camfield P, Camfield C. Camfield P, et al. Epilepsia. 2007 Jun;48(6):1128-32. doi: 10.1111/j.1528-1167.2007.01072.x. Epub 2007 Apr 18. Epilepsia. 2007. PMID: 17442010 Free article.
At the end of follow-up, nearly 90% of patients fell into one of three outcome categories: death, 19 (24%); alive with intractable epilepsy, 31 (39%); or in remission for >or=5 years, 21 (26%). ...SGE is characterized by early age at onset, high rates of handicap, in …
At the end of follow-up, nearly 90% of patients fell into one of three outcome categories: death, 19 (24%); alive with intractable ep …
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M, Dobyns WB. Kato M, et al. J Child Neurol. 2005 Apr;20(4):392-7. doi: 10.1177/08830738050200042001. J Child Neurol. 2005. PMID: 15921244
Male patients with X-linked lissencephaly with abnormal genitalia show intractable seizures, especially clonic convulsions or myoclonus from the first day of life, but neither infantile spasms nor hypsarrhythmia on electroencephalograms so far. ...
Male patients with X-linked lissencephaly with abnormal genitalia show intractable seizures, especially clonic convulsions or myoc …