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Abbreviation : PVNH
Long Form : periventricular nodular heterotopia
No. Year Title Co-occurring Abbreviation
1  2022 Periventricular nodular heterotopia is coupled with the neocortex during resting and task states. MEG, SEEG
2  2022 Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature. FLNA
3  2022 The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia. FLNA
4  2022 Three Generations of FLNA-Associated Periventricular Nodular Heterotopia. ---
5  2022 Using magnetic resonance fingerprinting to characterize periventricular nodular heterotopias in pharmacoresistant epilepsy. MRF, PSD, SEEG, SOZ
6  2021 Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review. FLNA, iNO
7  2021 Convolutional neural networks to identify malformations of cortical development: A feasibility study. AUC, CM, CNN, MCD, MRI
8  2021 Magnetic resonance-guided laser interstitial thermal therapy for pediatric periventricular nodular heterotopia-related epilepsy. MRgLITT
9  2021 Network of autoscopic hallucinations elicited by intracerebral stimulations of periventricular nodular heterotopia: An SEEG study. ---
10  2021 Radiological and Clinical Value of 7T MRI for Evaluating 3T-Visible Lesions in Pharmacoresistant Focal Epilepsies. FCD, icEEG, PMG
11  2020 Functional and resting-state characterizations of a periventricular heterotopic nodule associated with epileptogenic activity. fMRI, rsfMRI
12  2020 Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. ---
13  2020 Laser Interstitial Thermal Therapy for Epileptogenic Periventricular Nodular Heterotopia. LITT
14  2020 Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report. COB, TMTC3
15  2020 Whole-brain multimodal MRI phenotyping of periventricular nodular heterotopia. ---
16  2019 Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. FLNA
17  2019 MAP1B related syndrome: Case presentation and review of literature. ID, MAP1B, WES
18  2019 Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS System: Efficacy and description of chronic electrophysiological recordings. ECoGs
19  2019 [Periventricular nodular heterotopia : a pediatric case]. ---
20  2018 A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. FLNA, PDA
21  2018 De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. ---
22  2018 Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. ---
23  2018 Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. FLNA, LOF, PDA, TAA
24  2017 Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. ID, VGAT
25  2016 Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. ---
26  2016 Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. CSD, DW, MR, TDI
27  2015 47 patients with FLNA associated periventricular nodular heterotopia. ---
28  2015 Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. CIPO, FLNA
29  2015 Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. EPGP
30  2014 Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. FLNA, MRI, PFC, US
31  2014 Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. ---
32  2014 Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. MRgLITT, PRE
33  2013 Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. JS
34  2012 Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. ACC, PMG, XLAG
35  2012 Periventricular nodular heterotopia functionally couples with the overlying hippocampus. ---
36  2010 Functional MRI interactions between dysplastic nodules and overlying cortex in periventricular nodular heterotopia. EEG
37  2008 Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. PET, SPM
38  2005 A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. FLNA
39  2005 Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome? OFD
40  2004 A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. OPD
41  2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. FMD, MNS, OPD1