Research & Literature

Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report.

Momen AA, Momen M

Iranian journal of child neurology 2015; (9(2)):64-8.

Familial pachygyria in both genders related to a DCX mutation.

Kim YO, Nam TS, Park C, et al.

Brain & development 2016; (38(6)):585-9.

Management of Drug-Resistant Epilepsy.

Nair DR

Continuum (Minneapolis, Minn.) 2016; (22(1 Epilepsy)):157-72 doi:10.1212/CON.0000000000000297.

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

Tsai MH, Kuo PW, Myers CT, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(5)):788-94.

Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia.

Franco A, Pimentel J, Campos AR, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(4)):426-430 doi:10.1684/epd.2016.0878.

Management of status epilepticus.

Pichler M, Hocker S

Handbook of clinical neurology 2017; (140()):131-151 doi:10.1016/B978-0-444-63600-3.00009-X.

Advanced structural multimodal imaging of a patient with subcortical band heterotopia.

Kini LG, Nasrallah IM, Coto C, et al.

Epilepsia open 2016; (1(3-4)):152-155 doi:10.1002/epi4.12019.

Lissencephaly: Expanded imaging and clinical classification.

Di Donato N, Chiari S, Mirzaa GM, et al.

American journal of medical genetics. Part A 2017; (173(6)):1473-1488 doi:10.1002/ajmg.a.38245.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

González-Morón D, Vishnopolska S, Consalvo D, et al.

PloS one 2017; (12(9)):e0185103 doi:10.1371/journal.pone.0185103.

Acute Systemic Complications of Convulsive Status Epilepticus-A Systematic Review.

Sutter R, Dittrich T, Semmlack S, et al.

Critical care medicine 2018; (46(1)):138-145 doi:10.1097/CCM.0000000000002843.

[Subcortical laminar heterotopia 'double cortex syndrome'].

Teplyshova AM, Gaskin VV, Kustov GV, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2017; (117(9. Vyp. 2)):75-79 doi:10.17116/jnevro20171179275-79.

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Damiano JA, Do H, Ozturk E, et al.

Epileptic disorders : international epilepsy journal with videotape 2017; (19(4)):450-455 doi:10.1684/epd.2017.0944.

Ketogenic diet use in children with intractable epilepsy secondary to malformations of cortical development: A two- centre experience.

Pasca L, Caraballo RH, De Giorgis V, et al.

Seizure 2018; (57()):34-37 doi:10.1016/j.seizure.2018.03.005.

Domain swap in the C-terminal ubiquitin-like domain of human doublecortin.

Rufer AC, Kusznir E, Burger D, et al.

Acta crystallographica. Section D, Structural biology 2018; (74(Pt 5)):450-462 doi:10.1107/S2059798318004813.

Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia.

Plantier V, Watrin F, Buhler E, et al.

Cerebral cortex (New York, N.Y. : 1991) 2019; (29(10)):4253-4262 doi:10.1093/cercor/bhy307.

Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia.

Sahu S, Buhler E, Vermoyal JC, et al.

Epilepsia 2019; (60(2)):337-348 doi:10.1111/epi.14633.

Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia.

Martineau FS, Fournier L, Buhler E, et al.

Brain research 2019; (1711()):146-155 doi:10.1016/j.brainres.2019.01.030.

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Wright CF, Prigmore E, Rajan D, et al.

Nature communications 2019; (10(1)):2985 doi:10.1038/s41467-019-11059-2.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Grelet M, Mortreux J, Alazard E, et al.

Clinical dysmorphology 2019; (28(4)):205-210 doi:10.1097/MCD.0000000000000293.

An Examination of Serum Acylcarnitine and Amino Acid Profiles at Different Time Point of Ketogenic Diet Therapy and Their Association of Ketogenic Diet Effectiveness.

Hung PL, Lin JL, Chen C, et al.

Nutrients 2020; (13(1)) doi:10.3390/nu13010021.

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (30()):71-81 doi:10.1016/j.ejpn.2020.12.011.

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

Markus F, Kannengießer A, Näder P, et al.

Journal of human genetics 2021; (66(12)):1159-1167 doi:10.1038/s10038-021-00947-5.

Genetic causes underlying grey matter heterotopia.

Vriend I, Oegema R

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (35()):82-92 doi:10.1016/j.ejpn.2021.09.015.

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study.

Chiba E, Kimura Y, Shimizu-Motohashi Y, et al.

Neuroradiology 2022; (64(4)):825-836 doi:10.1007/s00234-021-02836-2.

Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation.

Gilliam FG, Ssentongo P, Sather M, Kawasawa YI

Frontiers in neurology 2021; (12()):779113 doi:10.3389/fneur.2021.779113.

Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.

Lin JR, Cheng JF, Liu YT, et al.

Epilepsia 2022; (63(5)):1253-1265 doi:10.1111/epi.17198.

Non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia: systematic review and illustrative case.

Kurzbuch AR, Cooper B, Israni A, Ellenbogen JR

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(2)):451-462 doi:10.1007/s00381-022-05638-w.

Double cortex syndrome (subcortical band heterotopia): A case report.

Afzal F, Tabassum S, Naeem A, et al.

Radiology case reports 2023; (18(2)):671-674 doi:10.1016/j.radcr.2022.11.021.

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats.

Hardy D, Buhler E, Suchkov D, et al.

Neurobiology of disease 2023; (177()):106002 doi:10.1016/j.nbd.2023.106002.

Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.

Toldo I, Brunello F, Cavasin P, et al.

Pediatric neurology 2023; (141()):58-64 doi:10.1016/j.pediatrneurol.2023.01.012.

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.

D'Gama AM, Poduri A

Neurobiology of disease 2023; (181()):106104 doi:10.1016/j.nbd.2023.106104.

Drug resistance in epilepsy.

Perucca E, Perucca P, White HS, Wirrell EC

The Lancet. Neurology 2023; (22(8)):723-734 doi:10.1016/S1474-4422(23)00151-5.

Double inversion recovery MRI of subcortical band heterotopia and its variations.

Chiba E, Sato N, Kimura Y, et al.

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2023; (33(5)):731-736 doi:10.1111/jon.13141.

Status Epilepticus.

Freedman DA, Roach ES

Pediatrics in review 2023; (44(7)):383-392 doi:10.1542/pir.2022-005632.

Nonconvulsive Status Epilepticus: A Review for Emergency Clinicians.

Long B, Koyfman A

The Journal of emergency medicine 2023; (65(4)):e259-e271 doi:10.1016/j.jemermed.2023.05.012.

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.

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.

Gao C, Liu N, Ma J, et al.

Heliyon 2023; (9(11)):e22323 doi:10.1016/j.heliyon.2023.e22323.

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.

Tsai MH, Ke HC, Lin WC, et al.

Acta neuropathologica 2024; (147(1)):13 doi:10.1007/s00401-023-02665-y.

Guidelines for Specialized Epilepsy Centers: Executive Summary of the Report of the National Association of Epilepsy Centers Guideline Panel.

Lado FA, Ahrens SM, Riker E, et al.

Neurology 2024; (102(4)):e208087 doi:10.1212/WNL.0000000000208087.

ILAE neuroimaging task force highlight: Subcortical laminar heterotopia.

Kasper BS, Archer J, Bernhardt BC, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(2)):225-232 doi:10.1002/epd2.20206.

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

Procopio R, Fortunato F, Gagliardi M, et al.

International journal of molecular sciences 2024; (25(10)) doi:10.3390/ijms25105505.

Lissencephaly with subcortical band heterotopia in an East African child: A case report.

Ngowi E, Datoo A, Ally P, et al.

Radiology case reports 2025; (20(1)):480-483 doi:10.1016/j.radcr.2024.10.067.

Parental Somatic Mosaicism Detected During Prenatal Diagnosis.

Chandler NJ, Scotchman E, McKay F, et al.

Prenatal diagnosis 2025; (45(2)):171-177 doi:10.1002/pd.6712.

Diagnosis and management of status epilepticus: improving the status quo.

Gettings JV, Mohammad Alizadeh Chafjiri F, Patel AA, et al.

The Lancet. Neurology 2025; (24(1)):65-76 doi:10.1016/S1474-4422(24)00430-7.

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Haridas B, Testino A, Kossoff EH

Epileptic disorders : international epilepsy journal with videotape 2025; (27(2)):144-155 doi:10.1002/epd2.20320.

Grey matter hypertropia in a child with recurrent seizure: A case report.

Dhakal N, Dahal P

Radiology case reports 2025; (20(4)):1807-1811 doi:10.1016/j.radcr.2024.12.050.

Dietary Therapies in Epilepsy.

Reddy SB, Carter EG

Seminars in neurology 2025; (45(2)):221-231 doi:10.1055/a-2534-3335.

Doublecortin restricts neuronal branching by regulating tubulin polyglutamylation.

Sébastien M, Paquette AL, Prowse ENP, et al.

Nature communications 2025; (16(1)):1749 doi:10.1038/s41467-025-56951-2.

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

Peer S, Wander A, Meena AK

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(7)):3349-3351 doi:10.1007/s10072-025-08163-1.

Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.

Dahlin M, Stödberg T, Ekman E, et al.

Brain communications 2025; (7(2)):fcaf134 doi:10.1093/braincomms/fcaf134.

Corpus Callosotomy for Atonic Drop Seizures in Bilateral Malformations of Cortical Development: A Systematic Review of Literature.

Kosco E, Back W, Lucarelli V, et al.

Cureus 2025; (17(3)):e81359 doi:10.7759/cureus.81359.

How Close Are We? Neuropsychologic Assessment in New-Onset Pediatric Epilepsy.

Nussbaum N, Lopez KR, Clarke DF

Pediatric neurology 2025; (170()):106-109 doi:10.1016/j.pediatrneurol.2025.06.018.

Subcortical band heterotopia: electroclinical, radiological, and prognostic features in adults.

Cakar MM, Ozum-Irmak T, Karli-Oguz K, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(12)):6763-6769 doi:10.1007/s10072-025-08582-0.

Technical Neurosurgical Aspects of Pediatric Epilepsy Surgery Including Resections and Disconnections.

Botros D, Warsi NM, Bollo RJ

Pediatric neurosurgery 2026; (61(1)):49-55 doi:10.1159/000549430.

Status Epilepticus.

Siegel CR, Khoujah D

Emergency medicine clinics of North America 2026; (44(1)):187-202 doi:10.1016/j.emc.2025.08.011.

A Review of Current Research and Barriers to Access: Exploring Disparities in Pediatric Epilepsy Surgery.

Das N, Mohamed AA, Katyayan A, Vessell M

Pediatric neurosurgery 2026; (61(1)):100-110 doi:10.1159/000549985.

Subcortical band heterotopia in a child with new-onset seizures: A case report.

Shukralla NA, Hunde WM, Tibebe M, Dida MK

Epilepsy & behavior reports 2026; (33()):100852 doi:10.1016/j.ebr.2026.100852.

Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.

Huang R, Fu F, Zhang N, et al.

Brain communications 2026; (8(2)):fcag069 doi:10.1093/braincomms/fcag069.