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Quoted phrase not found in phrase index: "Periventricular nodular heterotopia 7"
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.
MATERIALS AND METHODS: Individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-throughput sequencing study of individuals with periventricular nodular heterotopia or from clinical diagnostic sequencin …
MATERIALS AND METHODS: Individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-th …
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging.
Blondiaux E, Sileo C, Nahama-Allouche C, Moutard ML, Gelot A, Jouannic JM, Ducou le Pointe H, Garel C. Blondiaux E, et al. Ultrasound Obstet Gynecol. 2013 Aug;42(2):149-55. doi: 10.1002/uog.12340. Ultrasound Obstet Gynecol. 2013. PMID: 23151899 Free article.
OBJECTIVES: To describe the prenatal ultrasound and magnetic resonance imaging (MRI) findings suggestive of periventricular nodular heterotopia (PNH). METHODS: This retrospective case series included fetuses referred to our institution for brain MRI between 2 …
OBJECTIVES: To describe the prenatal ultrasound and magnetic resonance imaging (MRI) findings suggestive of periventricular nodula …
47 patients with FLNA associated periventricular nodular heterotopia.
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. Lange M, et al. Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9. Orphanet J Rare Dis. 2015. PMID: 26471271 Free PMC article.
BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat …
BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal p …
Periventricular nodular heterotopia with overlying polymicrogyria.
Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB. Wieck G, et al. Brain. 2005 Dec;128(Pt 12):2811-21. doi: 10.1093/brain/awh658. Brain. 2005. PMID: 16311271
Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. ...It was characterized by PNH in the trigones, temporal and posterior horns of the late …
Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have …
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
RATIONALE: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene. PATIENT CONCERNS: We repor …
RATIONALE: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improp …
Prevalence of neuropsychiatric symptoms associated with malformations of cortical development.
Ho CSH, Dubeau F, Séguin R, Ducharme S. Ho CSH, et al. Epilepsy Behav. 2019 Mar;92:306-310. doi: 10.1016/j.yebeh.2019.01.011. Epub 2019 Feb 5. Epilepsy Behav. 2019. PMID: 30731297
The three most common MCD subtypes were focal cortical dysplasia (47.7%), periventricular nodular heterotopia (29.1%), and polymicrogyria (16.3%). ...The most frequently described symptoms were anxiety-related (59.3%), followed by irritability (40.7 …
The three most common MCD subtypes were focal cortical dysplasia (47.7%), periventricular nodular heterotopia (2 …
Periventricular nodular heterotopia: epileptogenic findings.
Battaglia G, Granata T, Farina L, D'Incerti L, Franceschetti S, Avanzini G. Battaglia G, et al. Epilepsia. 1997 Nov;38(11):1173-82. doi: 10.1111/j.1528-1157.1997.tb01213.x. Epilepsia. 1997. PMID: 9579917 Free article.
PURPOSE: We studied 17 patients with periventricular nodular heterotopia (PNH) to further investigate the electroclinical pictures and semiology of the associated seizures. ...RESULTS: The patients were subdivided into those with bilateral (7) and unil …
PURPOSE: We studied 17 patients with periventricular nodular heterotopia (PNH) to further investigate the electroclinic …
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale). Teixeira SR, et al. Prenat Diagn. 2015 Apr;35(4):337-41. doi: 10.1002/pd.4543. Epub 2015 Jan 5. Prenat Diagn. 2015. PMID: 25475607
OBJECTIVE: The association of periventricular nodular heterotopia (PVNH) with posterior fossa cyst (PFC) is documented after birth. ...Those findings were confirmed by postnatal MRI (n = 3), autopsy (n = 7) and/or post-mortem MRI (n = 2) or US (n = 1). …
OBJECTIVE: The association of periventricular nodular heterotopia (PVNH) with posterior fossa cyst (PFC) is documented …
Further characterization of NFIB-associated phenotypes: Report of two new individuals.
Marinella G, Conti E, Buchignani B, Sgherri G, Pasquariello R, Giordano F, Cristofani P, Battini R, Battaglia A. Marinella G, et al. Am J Med Genet A. 2023 Feb;191(2):540-545. doi: 10.1002/ajmg.a.63018. Epub 2022 Nov 2. Am J Med Genet A. 2023. PMID: 36321570 Free PMC article.
Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. The first is a 7-year 9-month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance imaging finding …
Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. The first is a 7 …
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