Research & Literature

Schizencephaly-diagnostics and clinical dilemmas.

Halabuda A, Klasa L, Kwiatkowski S, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2015; (31(4)):551-6 doi:10.1007/s00381-015-2638-1.

Central nervous system injury in utero: selected entities.

Naidich TP, Griffiths PD, Rosenbloom L

Pediatric radiology 2015; (45 Suppl 3()):S454-62 doi:10.1007/s00247-015-3344-6.

Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report.

Nam KY, Kim C, Park JW, et al.

International journal of pediatric otorhinolaryngology 2015; (79(11)):1935-7.

Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.

Matsumoto T, Miyakoshi K, Fukutake M, et al.

Journal of medical ultrasonics (2001) 2015; (42(3)):445-6 doi:10.1007/s10396-015-0610-z.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Smigiel R, Cabala M, Jakubiak A, et al.

Birth defects research. Part A, Clinical and molecular teratology 2016; (106(4)):304-7 doi:10.1002/bdra.23488.

Cortical Clefts and Cortical Bumps: A Continuous Spectrum.

Biswas A, Furruqh F, Thirunavukarasu S, Vivekandan R

Journal of clinical and diagnostic research : JCDR 2016; (10(7)):TD01-2 doi:10.7860/JCDR/2016/20343.8179.

The Rate of Complications after Ventriculoperitoneal Shunt Surgery.

Merkler AE, Ch'ang J, Parker WE, et al.

World neurosurgery 2017; (98()):654-658 doi:10.1016/j.wneu.2016.10.136.

COL4A1 and fetal vascular origins of schizencephaly.

Khalid R, Krishnan P, Andres K, et al.

Neurology 2018; (90(5)):232-234 doi:10.1212/WNL.0000000000004890.

A rare case of schizencephaly in an adult with late presentation.

Kamble V, Lahoti AM, Dhok A, et al.

Journal of family medicine and primary care 2017; (6(2)):450-452 doi:10.4103/jfmpc.jfmpc_43_17.

Schizencephaly in children: A single medical center retrospective study.

Hung PC, Wang HS, Chou ML, et al.

Pediatrics and neonatology 2018; (59(6)):573-580 doi:10.1016/j.pedneo.2018.01.009.

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.

Harada T, Uegaki T, Arata K, et al.

Yonago acta medica 2017; (60(4)):241-245 doi:10.24563/yam.2017.12.005.

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

Sato Y, Shibasaki J, Aida N, et al.

Human genome variation 2018; (5()):4 doi:10.1038/s41439-018-0005-y.

Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature.

Tylš F, Brunovský M, Šulcová K, et al.

Clinical EEG and neuroscience 2019; (50(1)):13-19 doi:10.1177/1550059418781119.

A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly.

Jbili N, Mounir K, Kechna H, et al.

Anaesthesia, critical care & pain medicine 2019; (38(2)):195-198 doi:10.1016/j.accpm.2018.06.002.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M, Mine M, Philbert M, et al.

European journal of medical genetics 2018; (61(12)):765-772 doi:10.1016/j.ejmg.2018.10.004.

Schizencephaly: A Review of 734 Patients.

Braga VL, da Costa MDS, Riera R, et al.

Pediatric neurology 2018; (87()):23-29 doi:10.1016/j.pediatrneurol.2018.08.001.

Incidence of and Causes for Ventriculoperitoneal Shunt Failure in Children Younger Than 2 Years: A Systematic Review.

Hasanain AA, Abdullah A, Alsawy MFM, et al.

Journal of neurological surgery. Part A, Central European neurosurgery 2019; (80(1)):26-33 doi:10.1055/s-0038-1669464.

Complications associated with ventriculoperitoneal shunts in dogs and cats with idiopathic hydrocephalus: A systematic review.

Gradner G, Kaefinger R, Dupré G

Journal of veterinary internal medicine 2019; (33(2)):403-412 doi:10.1111/jvim.15422.

Cortical malformations and COL4A1 mutation: Three new cases.

Vitale G, Pichiecchio A, Ormitti F, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019; (23(3)):410-417 doi:10.1016/j.ejpn.2019.02.006.

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.

Watanabe J, Okamoto K, Ohashi T, et al.

World neurosurgery 2019; (127()):446-450 doi:10.1016/j.wneu.2019.04.156.

Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.

Sunilkumar D, Nagarajan K, Kiran M, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(2)):417-421 doi:10.1007/s00381-019-04234-9.

Utility of stereo-electroencephalography recording guided by magnetoencephalography in the surgical treatment of epilepsy patients with negative magnetic resonance imaging results.

Liu W, Tian S, Zhang J, et al.

The International journal of neuroscience 2019; (129(11)):1045-1052 doi:10.1080/00207454.2019.1634066.

Life-threatening muscle complications of COL4A1-related disorder.

Okano S, Shimada S, Tanaka R, et al.

Brain & development 2020; (42(1)):93-97 doi:10.1016/j.braindev.2019.09.001.

Unilateral Open-lip Schizencephaly with Tonsillar Herniation in a Preterm Infant.

Gonzalez JC, Singhapakdi K, Martino AM, et al.

Journal of pediatric neurosciences 2019; (14(4)):225-227 doi:10.4103/jpn.JPN_75_19.

Optimized stereoelectroencephalography-guided radiofrequency thermocoagulation in the treatment of patients with focal epilepsy.

Wang D, Wei P, Shan Y, et al.

Annals of translational medicine 2020; (8(1)):15 doi:10.21037/atm.2019.10.112.

Epilepsy in paediatric patients with schizencephaly.

Kopyta I, Skrzypek M, Raczkiewicz D, et al.

Annals of agricultural and environmental medicine : AAEM 2020; (27(2)):279-283 doi:10.26444/aaem/122796.

Unilateral right closed-lip schizencephaly.

Alkareem M, Ahmed H, Ahmed G

BMJ case reports 2020; (13(9)) doi:10.1136/bcr-2020-235004.

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.

Scoppettuolo P, Ligot N, Wermenbol V, et al.

Frontiers in neurology 2020; (11()):827 doi:10.3389/fneur.2020.00827.

Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology.

Ferent J, Zaidi D, Francis F

Frontiers in cell and developmental biology 2020; (8()):578341 doi:10.3389/fcell.2020.578341.

A Rare Case of an Infant with Left Hemiparesis: A Case Report of Bilateral Open-lip Schizencephaly.

Siti BC, Zulkifli MM, Mohd Yusoff SS, et al.

Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia 2020; (15(3)):90-94.

COL4A1 mutation in an Indian child presenting as 'Cerebral Palsy' mimic.

Shah SM, Patel DD

The Indian journal of radiology & imaging 2020; (30(4)):500-503 doi:10.4103/ijri.IJRI_274_20.

Congenital Visual Field Loss from a Schizencephalic Cleft Damaging Meyer's Loop.

Kinde B, Barkovich AJ, Horton JC

Neuro-ophthalmology (Aeolus Press) 2021; (45(4)):277-280 doi:10.1080/01658107.2020.1844759.

Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.

Yoon JY, Kim DS, Kim GW, et al.

BioMed research international 2021; (2021()):9956609 doi:10.1155/2021/9956609.

Bilateral open lip schizencephaly.

Hakimi T, Mohammad Qasem K

Annals of medicine and surgery (2012) 2022; (73()):103204 doi:10.1016/j.amsu.2021.103204.

Antiseizure Medications for Adults With Epilepsy: A Review.

Kanner AM, Bicchi MM

JAMA 2022; (327(13)):1269-1281 doi:10.1001/jama.2022.3880.

Schizencephaly and the Neurodevelopmental Model of Psychosis.

Patwal R, Pai NM, Ganjekar S, et al.

Neurology India 2022; (70(2)):740-743 doi:10.4103/0028-3886.344662.

Schizencephaly as an Unusual Cause of Adult-Onset Epilepsy: A Case Report.

Battah A, DaCosta TR, Shanker E, et al.

Cureus 2022; (14(6)):e25848 doi:10.7759/cureus.25848.

Schizencephaly in Hereditary Hemorrhagic Telangiectasia.

Gaines JJ, Gilbert BC, Gossage JR, et al.

AJNR. American journal of neuroradiology 2022; (43(11)):1603-1607 doi:10.3174/ajnr.A7677.

Stereo-EEG for Epileptogenic Focus Localization in Schizencephaly: A Single-center Experience in Four Patients.

Liu PC, Chen HH, Chou CC, et al.

World neurosurgery 2023; (172()):e319-e325 doi:10.1016/j.wneu.2023.01.019.

Effectiveness and safety of ventriculoperitoneal shunt versus lumboperitoneal shunt for communicating hydrocephalus: A systematic review and meta-analysis with trial sequential analysis.

Ho YJ, Chiang WC, Huang HY, et al.

CNS neuroscience & therapeutics 2023; (29(3)):804-815 doi:10.1111/cns.14086.

A case of closedlip schizencephaly with absent septum pellucidum in an adult presenting with seizure disorder.

Khadka C, Gupta U, Bhandari P, et al.

Clinical case reports 2023; (11(6)):e7536 doi:10.1002/ccr3.7536.

Schizencephaly: A rare cause of late-onset epilepsy in an adult.

Laasri K, Naggar A, El Houss S, et al.

Radiology case reports 2023; (18(11)):3861-3864 doi:10.1016/j.radcr.2023.08.014.

Expanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.

Murakami N, Kurogi A, Shono T, et al.

Pediatric neurosurgery 2024; (59(2-3)):102-108 doi:10.1159/000536188.

Schizencephaly Associated With Bipolar Affective Disorder.

Rama Rao R, Reddy ABS, P D, Koul A

Cureus 2024; (16(2)):e54534 doi:10.7759/cureus.54534.

Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management.

Suwal S, Katwal S, Chataut D, et al.

Radiology case reports 2024; (19(6)):2292-2296 doi:10.1016/j.radcr.2024.02.094.

Outcomes of stereoelectroencephalography following failed epilepsy surgery in children.

Wong GM, McCray A, Hom K, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(8)):2471-2482 doi:10.1007/s00381-024-06420-w.

COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.

Bersani I, Ronci S, Savarese I, et al.

Frontiers in pediatrics 2024; (12()):1417873 doi:10.3389/fped.2024.1417873.

Open lip schizencephaly: An unusual cause of hemiparesis: A case report.

Mequanint MB, Mengesha CA, Alemu HT, Molla YD

Radiology case reports 2024; (19(11)):5354-5358 doi:10.1016/j.radcr.2024.07.192.

Fetal MRI Findings, Etiology, and Outcome in Prenatally Diagnosed Schizencephaly.

George E, Vassar R, Yu Y, et al.

AJNR. American journal of neuroradiology 2025; (46(4)):800-807 doi:10.3174/ajnr.A8523.

Undiagnosed Schizencephaly Presenting as Breakthrough Seizures.

Coacci J, Viccellio P

Clinical practice and cases in emergency medicine 2024; (8(4)):377-378 doi:10.5811/cpcem.20922.

A unilateral open-lip schizencephaly in a neonate: A rare case report.

Angmorterh SK, Kekessie KK, Venter RV, et al.

Radiology case reports 2025; (20(9)):4504-4509 doi:10.1016/j.radcr.2025.05.111.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Ortiz Hernández IY, Noboa Rodríguez J, Bueno Fernandez LA, Rijo Florimon K

Cureus 2025; (17(8)):e90530 doi:10.7759/cureus.90530.

COL4A1-Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings.

Meshal T, Shawabka AM, Lbraheem K, et al.

Clinical case reports 2025; (13(10)):e70964 doi:10.1002/ccr3.70964.

Complex neurological interplay: adult-onset migraine-triggered seizures in schizencephaly-a case report.

Wang Y, Zhou F, Liu F, et al.

Frontiers in human neuroscience 2025; (19()):1606004 doi:10.3389/fnhum.2025.1606004.

ECT for Catatonia in Schizencephaly.

Puthota J, Francis A, Madan N, et al.

The journal of ECT 2025; doi:10.1097/YCT.0000000000001193.