Research & Literature

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Hino-Fukuyo N, Togashi N, Takahashi R, et al.

Pediatric neurology 2016; (54()):39-42.e1.

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Gale DP, Oygar DD, Lin F, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016; (31(11)):1908-1914 doi:10.1093/ndt/gfw051.

Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.

Loscertales M, Nicolaou F, Jeanne M, et al.

BMC biology 2016; (14()):59 doi:10.1186/s12915-016-0281-2.

Ketogenic diet for epilepsy treatment.

Sampaio LP

Arquivos de neuro-psiquiatria 2016; (74(10)):842-848 doi:10.1590/0004-282X20160116.

Thalamic Hemorrhagic Stroke in the Term Newborn: A Specific Neonatal Syndrome With Non-uniform Outcome.

Merlini L, Hanquinet S, Fluss J

Journal of child neurology 2017; (32(8)):746-753 doi:10.1177/0883073817703503.

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.

Porencephalic cyst: a rare cause of new-onset seizure in an adult.

Qureshi A, Jehangir A, York EP

Journal of community hospital internal medicine perspectives 2018; (8(2)):92-93 doi:10.1080/20009666.2018.1454788.

Iatrogenic obstructive hydrocephalus resulting from Gelfoam accumulation within the cerebral aqueduct: a case report.

Hazama A, Driver J, Grannan B, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(11)):2333-2335 doi:10.1007/s00381-018-3874-y.

Cyst-Peritoneal Shunt for the Treatment of a Progressive Intracerebral Cyst Associated with ASNS Mutation: Case Report and Literature Review.

Chen B, Li W, Wang X, et al.

World neurosurgery 2019; (127()):1-7 doi:10.1016/j.wneu.2019.02.130.

Surgical outcomes and prognostic factors of drug-resistant epilepsy secondary to encephalomalacia.

He X, Zhai F, Guan Y, et al.

Epilepsia 2019; (60(5)):948-957 doi:10.1111/epi.14733.

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.

Nau S, McCourt EA, Maloney JA, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(4)):246-248 doi:10.1016/j.jaapos.2019.04.003.

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.

Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures.

El Hasbani G, Balaghi A, Assaker R, et al.

Radiology case reports 2020; (15(1)):95-99 doi:10.1016/j.radcr.2019.10.028.

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.

Nandeesh BN, Bindu PS, Narayanappa G, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2020; (40(1)):93-98 doi:10.1111/neup.12607.

Couples becoming parents: Trajectories for psychological distress and buffering effects of social support.

Hughes C, T Devine R, Foley S, et al.

Journal of affective disorders 2020; (265()):372-380 doi:10.1016/j.jad.2020.01.133.

Endoscopic Fenestration of a Symptomatic Porencephalic Cyst in an Adult.

Wynne D, Abdul Jalil MF, Dhillon R

World neurosurgery 2020; (141()):245-246 doi:10.1016/j.wneu.2020.06.092.

Neuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood.

Reiter K, Gustaw Rothenberg K

Neurocase 2020; (26(6)):353-359 doi:10.1080/13554794.2020.1841798.

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.

Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.

Donner I, Sipilä LJ, Plaketti RM, et al.

Vascular 2022; (30(5)):842-847 doi:10.1177/17085381211033157.

Progressive cerebral atrophies in three children with COL4A1 mutations.

Nakamura Y, Okanishi T, Yamada H, et al.

Brain & development 2021; (43(10)):1033-1038 doi:10.1016/j.braindev.2021.06.008.

A Giant Porencephaly: A Rare Etiology of Pediatric Seizures.

Alzahrani RA, Alghamdi AF, Alzahrani MA, et al.

Cureus 2021; (13(11)):e19623 doi:10.7759/cureus.19623.

Psychosis Associated with Acquired Porencephaly-Cause or Incidental Finding? Case Report and Review of Literature.

Puiu MG, Dionisie V, Filip AC, Manea M

Medicina (Kaunas, Lithuania) 2022; (58(5)) doi:10.3390/medicina58050586.

The CORE-KDT study: a mixed methods protocol to establish core outcomes for refractory childhood epilepsy treated with ketogenic diet therapy.

Carroll JH, Cross JH, Hickson M, et al.

Trials 2022; (23(1)):675 doi:10.1186/s13063-022-06629-7.

Post-traumatic cysts detected by ultrasound in infant presented with first-time seizures: Case report.

AlGoraini Y, AlJohani H, AlSaegh A, AlSadhan N

Radiology case reports 2022; (17(11)):4128-4131 doi:10.1016/j.radcr.2022.08.042.

Current state of hemispherectomy and callosotomy for pediatric refractory epilepsy in Denmark.

De Knegt VE, Børresen ML, Knudsen M, et al.

Brain & development 2024; (46(3)):142-148 doi:10.1016/j.braindev.2023.11.009.

Are postnatal traumatic events an underestimated cause of porencephalic lesions in dogs and cats?

Davini T, Mattei C, La Rosa C, et al.

Frontiers in veterinary science 2023; (10()):1302399 doi:10.3389/fvets.2023.1302399.

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.

Burns A, Hug J

BMJ case reports 2024; (17(2)) doi:10.1136/bcr-2023-259103.

Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.

Labelle-Dumais C, Mazur C, Kaya S, et al.

Matrix biology : journal of the International Society for Matrix Biology 2024; (133()):1-13 doi:10.1016/j.matbio.2024.07.005.

It's all about quality: Life after pediatric epilepsy surgery.

Smith ML

Epilepsy & behavior : E&B 2024; (160()):110080 doi:10.1016/j.yebeh.2024.110080.

Porencephaly and Psychosis: A Rare Case of Neurological and Psychiatric Intersection.

Gupta T, Suresh S, Chadha Y, et al.

Cureus 2024; (16(9)):e69486 doi:10.7759/cureus.69486.

Obsessive-compulsive disorder and temporal lobe porencephaly: a case report.

Deng G, Cao Y, Qiu C

BMC psychiatry 2025; (25(1)):341 doi:10.1186/s12888-025-06774-8.

Symptomatic Expanding Porencephalic Cyst after Evacuation of Intracerebral Hematoma in an Adult: A Case Report.

Takamura Y

JMA journal 2025; (8(2)):637-640 doi:10.31662/jmaj.2024-0189.

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.

Comparative Diagnostic and Prognostic Performance of SWI and T2-Weighted MRI in Cerebral Microbleed Detection Following Acute Ischemic Stroke: A Meta-Analysis and SPOT-CMB Study.

Tan R, Spring KJ, Killingsworth M, Bhaskar S

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091566.

Life-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.

de Gouvea PLRC, Ferreira-Pinto PHC, Baroni Coelho de Oliveira Ferreira D, et al.

Surgical neurology international 2025; (16()):383 doi:10.25259/SNI_250_2025.

Care preparedness of family caregivers of patients with laryngeal cancer: A cross-sectional study.

Zhang Z, Zhao Z, Liu X

Journal of affective disorders 2026; (394(Pt A)):120488 doi:10.1016/j.jad.2025.120488.

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.

New-Onset Complex Partial Seizures Progressing to Intractable Epilepsy in a Young Female With Bifrontal Encephalomalacia and a Remote History of Traumatic Brain Injury.

Villegas KJ, Sorathia A, Salib M, et al.

Clinical case reports 2026; (14(1)):e71830 doi:10.1002/ccr3.71830.

A mixed methods study of psychological distress in family caregivers of ovarian cancer patients based on the ABC-X model.

Xu X, Yu S, Jing M, et al.

European journal of oncology nursing : the official journal of European Oncology Nursing Society 2026; (80()):103088 doi:10.1016/j.ejon.2025.103088.

Exploring the lived experiences and coping strategies of mental health caregivers in Ethiopia: implications for supportive interventions.

Shumet S, Zeleke EG

International journal of mental health systems 2026; (20(1)).