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Quoted phrase not found in phrase index: "Periventricular nodular heterotopia 9"
Page 1
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N. Deloison B, et al. Eur J Med Genet. 2018 Dec;61(12):773-782. doi: 10.1016/j.ejmg.2018.10.015. Epub 2018 Nov 1. Eur J Med Genet. 2018. PMID: 30391507
OBJECTIVES: Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and outcome. ...Additional cortical malformations were exclusively observed in non diffuse PNH ( …
OBJECTIVES: Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with het …
Periventricular nodular heterotopia and cardiovascular defects.
Lee CH, Wai YY, Wu T. Lee CH, et al. Chang Gung Med J. 2011 Nov-Dec;34(6):628-35. Chang Gung Med J. 2011. PMID: 22196066 Free article.
BACKGROUND: Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. ...METHODS: Patients with a diagnosis of brain heterotopia on magnetic res …
BACKGROUND: Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodula …
Stereo-EEG ictal/interictal patterns and underlying pathologies.
Di Giacomo R, Uribe-San-Martin R, Mai R, Francione S, Nobili L, Sartori I, Gozzo F, Pelliccia V, Onofrj M, Lo Russo G, de Curtis M, Tassi L. Di Giacomo R, et al. Seizure. 2019 Nov;72:54-60. doi: 10.1016/j.seizure.2019.10.001. Epub 2019 Oct 5. Seizure. 2019. PMID: 31606703 Free article.
METHODS: We retrospectively analyzed findings from 102 patient with epilepsy due to Polymicrogyria (PMG), Periventricular Nodular Heterotopia (PNH), Focal Cortical Dysplasia (FCD) type I, IIa, IIb and Hippocampal Sclerosis (HS). ...Seizure freedom was achieve …
METHODS: We retrospectively analyzed findings from 102 patient with epilepsy due to Polymicrogyria (PMG), Periventricular Nodular …
Resting-state functional connectivity alterations in periventricular nodular heterotopia related epilepsy.
Liu W, Hu X, An D, Zhou D, Gong Q. Liu W, et al. Sci Rep. 2019 Dec 5;9(1):18473. doi: 10.1038/s41598-019-55002-3. Sci Rep. 2019. PMID: 31804610 Free PMC article.
Periventricular nodular heterotopia (PNH) is a neural migration disorder which often presents clinically with seizures. ...
Periventricular nodular heterotopia (PNH) is a neural migration disorder which often presents clinically with seizures. …
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE. Myers KA, et al. Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25. Epilepsia. 2017. PMID: 28440867
RESULTS: Thirty-one individuals were studied, aged 2-35 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prom …
RESULTS: Thirty-one individuals were studied, aged 2-35 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory …
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained along the lateral ventricles. ...We found an enrichment of either large rearrangements or cryptic copy number variants (CNVs) in PNH (15/42, …
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained …
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-year …
The Role of FDG-PET in Patients with Epilepsy Related to Periventricular Nodular Heterotopias: Diagnostic Features and Long-Term Outcome.
Popescu CE, Mai R, Sara R, Lizio D, Zanni D, Rossetti C, Caobelli F. Popescu CE, et al. J Neuroimaging. 2019 Jul;29(4):512-520. doi: 10.1111/jon.12620. Epub 2019 Apr 22. J Neuroimaging. 2019. PMID: 31006947
BACKGROUND AND PURPOSE: Periventricular nodular heterotopias (PNHs) are frequently associated with drug-resistant epilepsy (DRE). ...Overall, the concordance between SEEG and FDG-PET was 26/31 (83.9%). Furthermore, cortical metabolic alterations were depicted …
BACKGROUND AND PURPOSE: Periventricular nodular heterotopias (PNHs) are frequently associated with drug-resistant epilepsy (DR …
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947
BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. ...CONCLUSION: We identified a new syndrome featuring bilateral periventricular het …
BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ec …
Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.
Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Tang PH, et al. AJNR Am J Neuroradiol. 2009 Feb;30(2):257-63. doi: 10.3174/ajnr.A1331. Epub 2008 Nov 6. AJNR Am J Neuroradiol. 2009. PMID: 18988682 Free PMC article.
Findings were confirmed in 8 cases with postnatal MR imaging, except for delayed sulcation and small vermis, and in 4 cases with autopsy, except for periventricular nodular heterotopia and abnormalities in areas not examined by autopsy. Neurodevelopmental out …
Findings were confirmed in 8 cases with postnatal MR imaging, except for delayed sulcation and small vermis, and in 4 cases with autopsy, ex …
20 results