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Quoted phrase not found in phrase index: "Heterotopia, periventricular, X-linked dominant"
Page 1
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S. Halliday BJ, et al. AJNR Am J Neuroradiol. 2022 Nov;43(11):1660-1666. doi: 10.3174/ajnr.A7663. Epub 2022 Oct 13. AJNR Am J Neuroradiol. 2022. PMID: 36229163 Free PMC article.
Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia. MATERIALS AND METHODS: Individuals w …
Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their prese …
Genetic causes underlying grey matter heterotopia.
Vriend I, Oegema R. Vriend I, et al. Eur J Paediatr Neurol. 2021 Nov;35:82-92. doi: 10.1016/j.ejpn.2021.09.015. Epub 2021 Oct 9. Eur J Paediatr Neurol. 2021. PMID: 34666232 Free article.
Grey matter heterotopia (GMH) can cause of seizures and are associated with a wide range of neurodevelopmental disorders and syndromes. ...We have performed an extensive literature search in Pubmed, OMIM, and Google scholar and provide an overview of known genetic associat …
Grey matter heterotopia (GMH) can cause of seizures and are associated with a wide range of neurodevelopmental disorders and syndrome …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. ...Bilateral perisylvian polymicrogyria has been ass …
Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) …
Sinus of Valsalva Aneurysm in Females.
Wang Y, Wu B, Li J, Shu X. Wang Y, et al. Int Heart J. 2022 Nov 30;63(6):1201-1204. doi: 10.1536/ihj.22-156. Epub 2022 Nov 12. Int Heart J. 2022. PMID: 36372407 Free article.
Recently, an association with aortic aneurysm and SVA has been revealed in periventricular nodular heterotopia patients with loss-of-function Filamin A (FLNA) mutations, which were located on chromosome X and almost exclusively affect females.Among patients h …
Recently, an association with aortic aneurysm and SVA has been revealed in periventricular nodular heterotopia patients …
Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia.
Khoo HM, Gotman J, Hall JA, Dubeau F. Khoo HM, et al. Curr Neurol Neurosci Rep. 2020 Oct 30;20(12):59. doi: 10.1007/s11910-020-01082-y. Curr Neurol Neurosci Rep. 2020. PMID: 33123826 Review.
PURPOSE OF REVIEW: Epilepsy associated with periventricular nodular heterotopia (PNH), a developmental malformation, is frequently drug-resistant and requires focal therapeutic intervention. ...
PURPOSE OF REVIEW: Epilepsy associated with periventricular nodular heterotopia (PNH), a developmental malformation, is …
Malformations of Cortical Development: From Postnatal to Fetal Imaging.
Lerman-Sagie T, Leibovitz Z. Lerman-Sagie T, et al. Can J Neurol Sci. 2016 Sep;43(5):611-8. doi: 10.1017/cjn.2016.271. Can J Neurol Sci. 2016. PMID: 27670206 Review.
Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible fo …
Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissenc …
Malformations of cortical development: New surgical advances.
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M. Bourdillon P, et al. Rev Neurol (Paris). 2019 Mar;175(3):183-188. doi: 10.1016/j.neurol.2019.01.392. Epub 2019 Feb 26. Rev Neurol (Paris). 2019. PMID: 30819503 Free article. Review.
The role of stereotactic surgery has recently changed the diagnosis and treatment of focal cortical dysplasias (FCD), hypothalamic hamartomas (HH) and periventricular nodular heterotopias (PNH). In HH, radiosurgery using Gammaknife() leads to 60 % of seizure control …
The role of stereotactic surgery has recently changed the diagnosis and treatment of focal cortical dysplasias (FCD), hypothalamic hamartoma …
X-linked malformations of cortical development.
Leventer RJ, Mills PL, Dobyns WB. Leventer RJ, et al. Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W. Am J Med Genet. 2000. PMID: 11449490 Review.
This review will discuss four cortical malformation syndromes, which are known or likely to have an X-linked inheritance pattern: bilateral periventricular nodular heterotopia, X-linked lissencephaly/subcortical band heterotopia, X-linked lissencephaly …
This review will discuss four cortical malformation syndromes, which are known or likely to have an X-linked inheritance pattern: bilateral …
Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.
Verrotti A, Monacelli D, Castagnino M, Villa MP, Parisi P. Verrotti A, et al. Seizure. 2014 Nov;23(10):819-24. doi: 10.1016/j.seizure.2014.07.014. Epub 2014 Jul 30. Seizure. 2014. PMID: 25131162 Free article. Review.
Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH). METHODS: We have carried out a critical review of all cases of e …
Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible associatio …
145 results