Research & Literature

[A case of focal epilepsy manifesting multiple psychiatric auras].

Ezura M, Kakisaka Y, Jin K, et al.

Brain and nerve = Shinkei kenkyu no shinpo 2015; (67(1)):105-9 doi:10.11477/mf.1416200093.

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.

Oda H, Sato T, Kunishima S, et al.

European journal of human genetics : EJHG 2016; (24(3)):408-14 doi:10.1038/ejhg.2015.119.

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.

Yilmaz S, Gokben S, Serdaroglu G, et al.

Brain & development 2016; (38(1)):124-7.

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.

Fallil Z, Pardoe H, Bachman R, et al.

Epilepsy & behavior : E&B 2015; (51()):321-7.

47 patients with FLNA associated periventricular nodular heterotopia.

Lange M, Kasper B, Bohring A, et al.

Orphanet journal of rare diseases 2015; (10()):134 doi:10.1186/s13023-015-0331-9.

Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia.

Thompson SA, Kalamangalam GP, Tandon N

Seizure 2016; (41()):211-6.

Malformations of Cortical Development: From Postnatal to Fetal Imaging.

Lerman-Sagie T, Leibovitz Z

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2016; (43(5)):611-8 doi:10.1017/cjn.2016.271.

Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

Liu W, Yan B, An D, et al.

Epilepsy research 2017; (133()):33-40 doi:10.1016/j.eplepsyres.2017.03.005.

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

Burrage LC, Guillerman RP, Das S, et al.

The Journal of pediatrics 2017; (186()):118-123.e6 doi:10.1016/j.jpeds.2017.03.045.

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

Kato K, Miya F, Hori I, et al.

Journal of human genetics 2017; (62(9)):861-863 doi:10.1038/jhg.2017.53.

Epileptogenic networks in nodular heterotopia: A stereoelectroencephalography study.

Pizzo F, Roehri N, Catenoix H, et al.

Epilepsia 2017; (58(12)):2112-2123 doi:10.1111/epi.13919.

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Chen MH, Choudhury S, Hirata M, et al.

American journal of medical genetics. Part A 2018; (176(2)):337-350 doi:10.1002/ajmg.a.38580.

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D, Hori I, Nakamura Y, et al.

Brain & development 2018; (40(6)):489-492 doi:10.1016/j.braindev.2018.01.010.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E, Shukla A, Hasanhodzic M, et al.

BMC medical genetics 2018; (19(1)):140 doi:10.1186/s12881-018-0655-0.

Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.

Rezazadeh A, Bercovici E, Kiehl TR, et al.

Annals of clinical and translational neurology 2018; (5(11)):1314-1322 doi:10.1002/acn3.641.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, et al.

European journal of human genetics : EJHG 2019; (27(6)):909-918 doi:10.1038/s41431-019-0335-3.

Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings.

Nune G, Arcot Desai S, Razavi B, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2019; (130(8)):1196-1207 doi:10.1016/j.clinph.2019.04.706.

[Periventricular nodular heterotopia : a pediatric case].

Ebetiuc I, Bulk S, Leroy P

Revue medicale de Liege 2019; (74(7-8)):388-390.

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.

Stouffs K, Verloo P, Brock S, et al.

Frontiers in genetics 2020; (11()):26 doi:10.3389/fgene.2020.00026.

Laser Interstitial Thermal Therapy for Epileptogenic Periventricular Nodular Heterotopia.

Whiting AC, Bingaman JR, Catapano JS, et al.

World neurosurgery 2020; (138()):e892-e897 doi:10.1016/j.wneu.2020.03.133.

Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia.

Khoo HM, Gotman J, Hall JA, Dubeau F

Current neurology and neuroscience reports 2020; (20(12)):59 doi:10.1007/s11910-020-01082-y.

Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.

Shah AS, Black ED, Simon DM, et al.

Pediatric allergy, immunology, and pulmonology 2021; (34(1)):7-14 doi:10.1089/ped.2020.1280.

Open Surgical Treatment of Acute Spontaneous Isolated Abdominal Aortic Dissection.

Zlatanovic P, Dragas M, Cvetkovic S, et al.

Annals of vascular surgery 2021; (74()):525.e13-525.e21 doi:10.1016/j.avsg.2021.02.035.

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia.

Eisenbiegler GE, Brown SA

Case reports in neurology 2021; (13(3)):777-781 doi:10.1159/000519507.

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

BMJ case reports 2022; (15(4)) doi:10.1136/bcr-2021-247268.

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.

Gerlevik U, Saygı C, Cangül H, et al.

PloS one 2022; (17(5)):e0265400 doi:10.1371/journal.pone.0265400.

An Independent Seizure-Onset Zone in Medial Temporal Lobe Found by 18 F-FDG PET Imaging Besides Epileptogenic Periventricular Nodular Heterotopia.

Guo R, Jin L, Dou W, et al.

Clinical nuclear medicine 2022; (47(9)):841-842 doi:10.1097/RLU.0000000000004283.

The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.

Lu YT, Hsu CY, Liu YT, et al.

Biomedical journal 2022; (45(3)):542-548 doi:10.1016/j.bj.2021.05.003.

Heterogenous Disease Course and Long-Term Outcome of Children's Interstitial Lung Disease Related to Filamin A Gene Variants.

Carlens J, Johnson KT, Bush A, et al.

Annals of the American Thoracic Society 2022; (19(12)):2021-2030 doi:10.1513/AnnalsATS.202202-142OC.

Magnetic resonance imaging features of isolated periventricular heterotopia in pediatric epilepsy: a comparative study

Tittle BJ, Maheshwari M, Marashly A

Epileptic disorders : international epilepsy journal with videotape 2022; (24(5)):795-802 doi:10.1684/epd.2022.1450.

Asymmetrical aortic root aneurism in patient with Filamin A mutation.

Martin-Suarez S, Gliozzi G, Pagano V, et al.

Journal of cardiac surgery 2022; (37(10)):3408-3412 doi:10.1111/jocs.16765.

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.

Paliotti K, Dassi C, Berrahmoune S, et al.

Journal of neurology 2023; (270(8)):3934-3945 doi:10.1007/s00415-023-11724-z.

Grey matter heterotopia subtypes show specific morpho-electric signatures and network dynamics.

Vermoyal JC, Hardy D, Goirand-Lopez L, et al.

Brain : a journal of neurology 2024; (147(3)):996-1010 doi:10.1093/brain/awad318.

Pulmonary hypertension in connective tissue diseases: What every CTD specialist should know - but is afraid to ask!

Sanges S, Sobanski V, Lamblin N, et al.

La Revue de medecine interne 2024; (45(1)):26-40 doi:10.1016/j.revmed.2023.10.450.

Diagnostic work-up in malformations of cortical development.

Rijckmans E, Stouffs K, Jansen AC

Developmental medicine and child neurology 2024; (66(8)):974-989 doi:10.1111/dmcn.15882.

Stereo-electroencephalography-guided radiofrequency thermocoagulation restricted to periventricular nodular heterotopias in patients with drug-resistant epilepsy: A single center experience.

Slegers R, Wagner L, van Kuijk S, et al.

Seizure 2024; (121()):105-113 doi:10.1016/j.seizure.2024.07.016.

A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause.

Neves MT, Borges AL, Martins G, et al.

Radiology case reports 2024; (19(11)):5393-5398 doi:10.1016/j.radcr.2024.07.190.

Laser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy.

McCormack RM, Chandran AS, Lhatoo SD, et al.

Annals of neurology 2024; (96(6)):1174-1184 doi:10.1002/ana.27059.

Pulmonary hypertension in patients carrying FLNA loss-of-function variants.

Stourm L, Grynblat J, Savale L, et al.

The European respiratory journal 2025; (65(3)) doi:10.1183/13993003.01132-2024.

Linear growth pattern can be used to predict ascending aortic aneurysm growth.

Viitala IM, Selander T, Hedman M, Turtiainen J

Scandinavian cardiovascular journal : SCJ 2024; (58(1)):2430001 doi:10.1080/14017431.2024.2430001.

FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.

Margot H, Hernandez Poblete N, Angelini C, et al.

Journal of medical genetics 2025; (62(4)):227-230 doi:10.1136/jmg-2024-110336.

Involved but not essential: cognitive activity in periventricular nodules and neuropsychological outcomes following their ablation.

Modiano YA, Woolnough O, McCormack RM, et al.

Journal of neurosurgery 2025; (143(1)):24-37 doi:10.3171/2024.10.JNS241541.

"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

Rijckmans E, De Strooper L, Keymolen K, et al.

Acta neurologica Belgica 2025; (125(5)):1347-1356 doi:10.1007/s13760-025-02858-0.

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of FLNA.

D'Amato I, Ganguzza E, Basilisco G, et al.

Frontiers in genetics 2025; (16()):1611614 doi:10.3389/fgene.2025.1611614.

Severe Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.

Brambila-Tapia AJL, Magaña-Torres MT, Figuera LE, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080870.

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.

Archer J, Edwards M, Macdougall T, et al.

Clinical genetics 2026; (109(3)):558-563 doi:10.1111/cge.70059.

Stereoelectroencephalography-guided radiofrequency thermocoagulation for refractory epilepsy associated with periventricular nodular heterotopia: a multicenter retrospective cohort study.

Li Z, Fan X, Mo J, et al.

International journal of surgery (London, England) 2025; doi:10.1097/JS9.0000000000004459.

Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.

Hoogwijs I, Mandelstam SA, McGillivray G, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (60()):78-85 doi:10.1016/j.ejpn.2025.12.004.

Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.

Liu J, Pan X, Qiao L, et al.

Frontiers in genetics 2025; (16()):1693117 doi:10.3389/fgene.2025.1693117.

Extended Root and Arch Replacement for Filamin A-Related Aortopathy With Severe Aortic Regurgitation.

Oda R, Goto K, Arakawa A, et al.

JACC. Case reports 2026; (31(17)):107533 doi:10.1016/j.jaccas.2026.107533.

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.

Hadi E, Sorotzkin A, Haddad L, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2026; (67(5)):635-645 doi:10.1002/uog.70217.

Gene variants in periventricular nodular heterotopia.

Song J, Sun X, Zhang C

Acta epileptologica 2026; (8(1)).

ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review.

Andreoli L, Caputo D, Doniselli FM, et al.

NeuroSci 2026; (7(3)) doi:10.3390/neurosci7030063.

A novel homozygous ARFGEF2 splice-site variant causing periventricular nodular heterotopia with microcephaly.

Liu X, Pang L, Li J, et al.

Frontiers in pediatrics 2026; (14()):1758158 doi:10.3389/fped.2026.1758158.

Neurosurgical management of childhood-onset epilepsy in periventricular nodular heterotopia: A systematic review of effectiveness and outcomes.

Thirumalai S, Champsas D, Bianco ML, et al.

Seizure 2026; (142()):104-117 doi:10.1016/j.seizure.2026.08.024.