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Page 1
Movement Disorder and Epilepsy in Subependymal Nodular Heterotopia.
Lohmror A, Choudhary R. Lohmror A, et al. J Assoc Physicians India. 2019 Jul;67(7):11-12. J Assoc Physicians India. 2019. PMID: 31559780
CONTEXT: Subependymal nodular heterotopia is a cortical development malformation that is commonly associated with refractory epilepsy. ...
CONTEXT: Subependymal nodular heterotopia is a cortical development malformation that is commonly associated with refra …
From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC. Sprenger F, et al. Childs Nerv Syst. 2022 Jun;38(6):1189-1193. doi: 10.1007/s00381-021-05366-7. Epub 2021 Sep 29. Childs Nerv Syst. 2022. PMID: 34586492
MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipita …
MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the mi …
Subependymal nodular heterotopia in patients with encephalocele.
Roelens FA, Barth PG, van der Harten JJ. Roelens FA, et al. Eur J Paediatr Neurol. 1999;3(2):59-63. doi: 10.1053/ejpn.1999.0183. Eur J Paediatr Neurol. 1999. PMID: 10700540
The first series consisted of all six patients who were treated in our hospital for encephalocele during the last 11 years and who underwent magnetic resonance imaging (MRI). In three, subependymal nodular heterotopia was found by MRI. The second series consi …
The first series consisted of all six patients who were treated in our hospital for encephalocele during the last 11 years and who underwent …
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L. El Chehadeh S, et al. Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26420639
Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. ...
Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilater …