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2005 5
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Page 1
Periventricular heterotopia.
Lu J, Sheen V. Lu J, et al. Epilepsy Behav. 2005 Sep;7(2):143-9. doi: 10.1016/j.yebeh.2005.05.001. Epilepsy Behav. 2005. PMID: 15996530 Review.
Periventricular heterotopia (PH) is clinically diagnosed on the basis of the radiographic characteristics of heterotopic nodules composed of disorganized neurons along the lateral ventricles of the brain. ...
Periventricular heterotopia (PH) is clinically diagnosed on the basis of the radiographic characteristics of heterotopic nodul …
Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.
Loft Nagel J, Jønch AE, Nguyen NTTN, Bygum A. Loft Nagel J, et al. BMJ Case Rep. 2022 Apr 12;15(4):e247268. doi: 10.1136/bcr-2021-247268. BMJ Case Rep. 2022. PMID: 35414575 Free PMC article. Review.
Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (FLNA) gene. ...
Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A …
Neuronal migration disorders.
Guerrini R, Parrini E. Guerrini R, et al. Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Neurobiol Dis. 2010. PMID: 19245832 Review.
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. ...NMDs only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular hetero …
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological …
Cerebral developmental disorders.
Lian G, Sheen V. Lian G, et al. Curr Opin Pediatr. 2006 Dec;18(6):614-20. doi: 10.1097/MOP.0b013e328010542d. Curr Opin Pediatr. 2006. PMID: 17099359 Review.
Mutations in genes that direct the onset of neuroblast migration give rise to periventricular heterotopia (clusters of neurons along the ventricles of the brain). Mutations in genes that are required for neuroblast migration cause type I lissencephaly (smooth brain) …
Mutations in genes that direct the onset of neuroblast migration give rise to periventricular heterotopia (clusters of neurons …
RF-ablation in periventricular heterotopia-related epilepsy.
Cossu M, Mirandola L, Tassi L. Cossu M, et al. Epilepsy Res. 2018 May;142:121-125. doi: 10.1016/j.eplepsyres.2017.07.001. Epub 2017 Jul 3. Epilepsy Res. 2018. PMID: 28705474 Review.
Drug-resistant focal epilepsy is a common occurrence in patients with gray matter nodular heterotopia (NH), and surgical treatment is often considered in these cases. ...
Drug-resistant focal epilepsy is a common occurrence in patients with gray matter nodular heterotopia (NH), and surgical treat …
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA, Santhakumar K. Tantry MSA, et al. Mol Neurobiol. 2023 Jul;60(7):3803-3823. doi: 10.1007/s12035-023-03302-1. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943622 Review.
Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neurodevelopmental defects like lissencephaly, microcephaly, cortical dysplasia, polymicrogyria, schizencephaly, subcortical band heterotopia, …
Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neurodevel …
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 …
Neuronal migration and disorders - an update.
Francis F, Cappello S. Francis F, et al. Curr Opin Neurobiol. 2021 Feb;66:57-68. doi: 10.1016/j.conb.2020.10.002. Epub 2020 Oct 20. Curr Opin Neurobiol. 2021. PMID: 33096394 Review.
These include disruptions of the actin cytoskeleton, the extracellular matrix, different adhesion molecules and signaling pathways, especially revealed in disorders such as periventricular heterotopia. These recent advances often involve the use of human in vitro mo …
These include disruptions of the actin cytoskeleton, the extracellular matrix, different adhesion molecules and signaling pathways, especial …
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 …
Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.
Riccio MP, D'Andrea G, Sarnataro E, Marino M, Bravaccio C, Albert U. Riccio MP, et al. J Med Case Rep. 2021 Oct 11;15(1):495. doi: 10.1186/s13256-021-03064-1. J Med Case Rep. 2021. PMID: 34629090 Free PMC article. Review.
BACKGROUND: Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. ...CONCLUSIONS: We found records of psychiatric disorders associated …
BACKGROUND: Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenoty …
75 results