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Quoted phrase not found in phrase index: "Cerebellar atrophy, developmental delay, and seizures"
Page 1
Cerebellar ataxia and coenzyme Q10 deficiency.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated …
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar at …
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Muthusamy K, et al. Genet Med. 2024 Feb;26(2):101027. doi: 10.1016/j.gim.2023.101027. Epub 2023 Nov 10. Genet Med. 2024. PMID: 37955240
Progressive cerebellar atrophy is the characteristic neuroimaging finding. Additionally, supratentorial white matter changes were noted in adult age. No correlation was observed between the seizure severity and SLE risk, although all patients with SLE have ha …
Progressive cerebellar atrophy is the characteristic neuroimaging finding. Additionally, supratentorial white matter changes w …
Treatment of seizures in subcortical laminar heterotopia with corpus callosotomy and lamotrigine.
Vossler DG, Lee JK, Ko TS. Vossler DG, et al. J Child Neurol. 1999 May;14(5):282-8. doi: 10.1177/088307389901400503. J Child Neurol. 1999. PMID: 10342594
We studied one male and two female patients with subcortical laminar heterotopia who had moderate to severe developmental delay, early-onset epilepsy, and medically refractory seizures. ...Two years after corpus callosotomy, one patient was free of generalize …
We studied one male and two female patients with subcortical laminar heterotopia who had moderate to severe developmental delay …
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
Zhang C, Deng X, Wen Y, He F, Yin F, Peng J. Zhang C, et al. BMC Med Genet. 2020 Nov 26;21(1):235. doi: 10.1186/s12881-020-01162-3. BMC Med Genet. 2020. PMID: 33243190 Free PMC article.
CASE PRESENTATION: Here we first present a Chinese male CFD patient whose seizure onset at 2 years old with convulsive status epilepticus. Magnetic Resonance Imaging (MRI) revealed the development of encephalomalacia, laminar necrosis in multiple lobes of the brain and …
CASE PRESENTATION: Here we first present a Chinese male CFD patient whose seizure onset at 2 years old with convulsive status epilept …
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E. García Segarra N, et al. J Neurol Sci. 2014 Jul 15;342(1-2):69-78. doi: 10.1016/j.jns.2014.04.027. Epub 2014 Apr 27. J Neurol Sci. 2014. PMID: 24836863
We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe attacks of hemiplegic migraine triggered by minor head traumas and associated with hemispheric swelling and seizures. Progressive cerebellar …
We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe attacks of hemip …
Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.
Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT. Al-Essa MA, et al. Brain Dev. 2000 Mar;22(2):127-31. doi: 10.1016/s0387-7604(99)00121-7. Brain Dev. 2000. PMID: 10722966
Magnetic resonance imaging of the brain revealed cerebellar vermin atrophy and subtle white matter changes in the cerebral hemispheres. Fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) scan of the brain showed a marked decrease in …
Magnetic resonance imaging of the brain revealed cerebellar vermin atrophy and subtle white matter changes in the cerebral hem …