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Quoted phrase not found in phrase index: "Focal lissencephaly"
Page 1
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, fo …
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-o …
Platelet-activating factor acetylhydrolases in health and disease.
Tjoelker LW, Stafforini DM. Tjoelker LW, et al. Biochim Biophys Acta. 2000 Oct 31;1488(1-2):102-23. doi: 10.1016/s1388-1981(00)00114-1. Biochim Biophys Acta. 2000. PMID: 11080681 Review.
The beta subunit is a product of the LIS1 gene, mutations of which cause Miller-Dieker lissencephaly. Isoform II is a single polypeptide that is homologous to the plasma PAF acetylhydrolase and has antioxidant activity in several systems. ...The most common inactivating mu …
The beta subunit is a product of the LIS1 gene, mutations of which cause Miller-Dieker lissencephaly. Isoform II is a single polypept …
Efficacy of the ketogenic diet: which epilepsies respond?
Thammongkol S, Vears DF, Bicknell-Royle J, Nation J, Draffin K, Stewart KG, Scheffer IE, Mackay MT. Thammongkol S, et al. Epilepsia. 2012 Mar;53(3):e55-9. doi: 10.1111/j.1528-1167.2011.03394.x. Epub 2012 Feb 6. Epilepsia. 2012. PMID: 22310062 Free article. Clinical Trial.
Responsive syndromes included migrating partial epilepsy of infancy, childhood absence epilepsy, focal epilepsy, epilepsy with myoclonic-atonic seizures, and Dravet syndrome. Children with lissencephaly and hypoxic ischemic encephalopathy had surprisingly good respo …
Responsive syndromes included migrating partial epilepsy of infancy, childhood absence epilepsy, focal epilepsy, epilepsy with myoclo …
Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403
At the age of 2 months, she presented myoclonic seizures and tonic seizures, and later experienced atonic seizures and focal impaired-awareness seizures (FIAS). EEG showed slow waves in right central areas during myoclonic seizures. ...
At the age of 2 months, she presented myoclonic seizures and tonic seizures, and later experienced atonic seizures and focal impaired …
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U. Herbst SM, et al. Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19. Brain Dev. 2016. PMID: 26494205
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy within the first year. AIM: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associated cla …
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resist …
Hot water epilepsy with pachygyria.
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R. Hizem Y, et al. Neurol Sci. 2012 Jun;33(3):631-3. doi: 10.1007/s10072-011-0780-4. Epub 2011 Sep 20. Neurol Sci. 2012. PMID: 21932090
Pathogenesis is still unknown and temporal lobe has been thought to take part in the epileptogenesis. HWE can be symptomatic of focal cortical malformation, and few cases were reported. This is the third report of HEW in which a parietal malformation has been observed. ...
Pathogenesis is still unknown and temporal lobe has been thought to take part in the epileptogenesis. HWE can be symptomatic of focal …
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs.
Yamamoto T, Shibata N, Saito Y, Osawa M, Kobayashi M. Yamamoto T, et al. Cent Nerv Syst Agents Med Chem. 2010 Jun 1;10(2):169-79. doi: 10.2174/187152410791196369. Cent Nerv Syst Agents Med Chem. 2010. PMID: 20518731 Review.
Fukutin, a gene responsible for FCMD, is presumably related to the glycosylation of alpha-dystroglycan like other causative genes of alpha-dystroglycanopathy. The CNS lesion of FCMD is characterized by cobblestone lissencephaly, associated with decreased glycosylation of a …
Fukutin, a gene responsible for FCMD, is presumably related to the glycosylation of alpha-dystroglycan like other causative genes of alpha-d …
Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria).
Mori K, Hashimoto T, Tayama M, Miyazaki M, Fukuda K, Endo S, Kuroda Y. Mori K, et al. Brain Dev. 1994 Sep-Oct;16(5):365-73. doi: 10.1016/0387-7604(94)90123-6. Brain Dev. 1994. PMID: 7892955 Clinical Trial.
We carried out serial EEG studies on 12 cases of lissencephaly (6 of agyria and 6 of pachygyria), polysomnograms being recorded in 8 of the 12 cases. ...The REM/min values decreased in all of these 4 cases, and, furthermore, the proportion of REM sleep decreased in 3 of th …
We carried out serial EEG studies on 12 cases of lissencephaly (6 of agyria and 6 of pachygyria), polysomnograms being recorded in 8 …
Amplitude-integrated EEG colored according to spectral edge frequency.
Kobayashi K, Mimaki N, Endoh F, Inoue T, Yoshinaga H, Ohtsuka Y. Kobayashi K, et al. Epilepsy Res. 2011 Oct;96(3):276-82. doi: 10.1016/j.eplepsyres.2011.06.012. Epub 2011 Jul 28. Epilepsy Res. 2011. PMID: 21802260 Clinical Trial.
OBJECTIVE: To improve the interpretability of figures containing an amplitude-integrated electroencephalogram (aEEG), we devised a color scale that allows us to incorporate spectral edge frequency (SEF) information into aEEG figures. Preliminary clinical assessment of this …
OBJECTIVE: To improve the interpretability of figures containing an amplitude-integrated electroencephalogram (aEEG), we devised a color sca …
Global and temporal cortical folding in patients with early-onset schizophrenia.
Penttilä J, Paillére-Martinot ML, Martinot JL, Mangin JF, Burke L, Corrigall R, Frangou S, Cachia A. Penttilä J, et al. J Am Acad Child Adolesc Psychiatry. 2008 Oct;47(10):1125-32. doi: 10.1097/CHI.0b013e3181825aa7. J Am Acad Child Adolesc Psychiatry. 2008. PMID: 18725863
Cortical folding was assessed by computing global sulcal indices (the ratio between total sulcal area and total outer cortex area) for each hemisphere and local sulcal indices (the ratio between the area of labeled sulcus and total outer cortex area in the corresponding he …
Cortical folding was assessed by computing global sulcal indices (the ratio between total sulcal area and total outer cortex area) for each …
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