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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1996 2
1997 1
1999 2
2000 4
2001 3
2002 3
2003 2
2004 2
2005 5
2006 3
2008 7
2009 5
2010 2
2011 2
2013 3
2014 2
2015 1
2016 5
2017 4
2018 4
2019 6
2020 5
2021 4
2022 2
2023 4

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73 results

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Page 1
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 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
Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M. Bourdillon P, et al. Seizure. 2020 Apr;77:64-68. doi: 10.1016/j.seizure.2019.01.021. Epub 2019 Jan 25. Seizure. 2020. PMID: 30711397 Free article. Review.
Lastly, SEEG-guided RF-TC can be considered as a first-line treatment for periventricular nodular heterotopia (PNH). Independently of indication, the overall seizure-free rate is 23% and the responder rate is 58%. ...
Lastly, SEEG-guided RF-TC can be considered as a first-line treatment for periventricular nodular heterotopia (PNH). In …
Filamin A: key actor in platelet biology.
Rosa JP, Raslova H, Bryckaert M. Rosa JP, et al. Blood. 2019 Oct 17;134(16):1279-1288. doi: 10.1182/blood.2019000014. Blood. 2019. PMID: 31471375 Free article. Review.
FLNa has been the recent focus of attention because its mutations are responsible for a wide spectrum of defects called filaminopathies A, affecting brain (peri-ventricular nodular heterotopia), heart (valve defect), skeleton, gastrointestinal tract, and, more recen …
FLNa has been the recent focus of attention because its mutations are responsible for a wide spectrum of defects called filaminopathies A, a …
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
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 …
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 …
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 …
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 …
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 …
73 results