Research & Literature

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Schrauwen I, Szelinger S, Siniard AL, et al.

Investigative ophthalmology & visual science 2015; (56(6)):3896-904 doi:10.1167/iovs.14-16261.

Effectiveness of Chin-tuck Maneuver to Facilitate Swallowing in Neurologic Dysphagia.

Saconato M, Chiari BM, Lederman HM, Gonçalves MI

International archives of otorhinolaryngology 2016; (20(1)):13-7 doi:10.1055/s-0035-1564721.

Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society.

Glauser T, Shinnar S, Gloss D, et al.

Epilepsy currents 2016; (16(1)):48-61 doi:10.5698/1535-7597-16.1.48.

Respiratory complications following hydrocarbon aspiration in children.

Makrygianni EA, Palamidou F, Kaditis AG

Pediatric pulmonology 2016; (51(6)):560-9 doi:10.1002/ppul.23392.

[Repeated Anesthesia Management in a Patient with Aicardi Syndrome].

Hitosugi T, Tsukamoto M, Ishii K, et al.

Masui. The Japanese journal of anesthesiology 2016; (65(1)):78-81.

A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.

Shirley K, O'Keefe M, McKee S, McLoone E

Eye (London, England) 2016; (30(7)):1011-6 doi:10.1038/eye.2016.81.

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Lund C, Striano P, Sorte HS, et al.

Molecular syndromology 2016; (7(4)):234-238 doi:10.1159/000448367.

Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison.

Govil-Dalela T, Kumar A, Agarwal R, Chugani HT

Pediatric neurology 2017; (68()):44-48.e2 doi:10.1016/j.pediatrneurol.2016.12.002.

Aicardi syndrome and cognitive abilities: A report of five cases.

Tuft M, Østby Y, Nakken KO, Lund C

Epilepsy & behavior : E&B 2017; (73()):161-165 doi:10.1016/j.yebeh.2017.05.002.

Nervous System Malformations.

Gaitanis J, Tarui T

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):72-95 doi:10.1212/CON.0000000000000561.

Nonconvulsive status epilepticus after cessation of convulsive status epilepticus in pediatric intensive care unit patients.

Chen J, Xie L, Hu Y, et al.

Epilepsy & behavior : E&B 2018; (82()):68-73 doi:10.1016/j.yebeh.2018.02.008.

Sleep in Children with Congenital Malformations of the Central Nervous System.

Yates JF, Troester MM, Ingram DG

Current neurology and neuroscience reports 2018; (18(7)):38 doi:10.1007/s11910-018-0850-6.

Rates and predictors of seizure outcome after corpus callosotomy for drug-resistant epilepsy: a meta-analysis.

Chan AY, Rolston JD, Lee B, et al.

Journal of neurosurgery 2019; (130(4)):1193-1202 doi:10.3171/2017.12.JNS172331.

Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network.

Ho NT, Kroner B, Grinspan Z, et al.

The Journal of pediatrics 2018; (203()):249-258.e5 doi:10.1016/j.jpeds.2018.07.055.

Aicardi syndrome in a 20-year-old female.

Mavrommatis MA, Friedman AH, Fowkes ME, Hefti MM

American journal of ophthalmology case reports 2018; (12()):61-64 doi:10.1016/j.ajoc.2018.09.004.

Anesthetic Management in Corpus Callosum Agenesis.

Kılıç ET, Akçay ME, Akdemir MS, et al.

Anesthesia, essays and researches 2018; (12(3)):758-760 doi:10.4103/aer.AER_91_18.

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Wong BKY, Sutton VR

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(4)):423-431 doi:10.1002/ajmg.c.31658.

Mysterious Cause of Respiratory Failure and Multilobar Atelectasis in a 17-Month-Old Male.

Davis GW, Lockett CJ, Charny G

Military medicine 2020; (185(7-8)):e1329-e1333 doi:10.1093/milmed/usz459.

Assessment of pediatric cricopharyngeal achalasia with high resolution manometry.

Türer ÖB, Demir N, Ciecieraga T, et al.

The Turkish journal of pediatrics 2019; (61(5)):804-809.

Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature.

Bernstock JD, Olsen HE, Segar D, et al.

World neurosurgery 2020; (142()):450-455 doi:10.1016/j.wneu.2020.06.230.

Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography.

Al-Moujahed A, Callaway NF, Ludwig CA, et al.

European journal of ophthalmology 2021; (31(6)):NP61-NP64 doi:10.1177/1120672120942702.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Masnada S, Pichiecchio A, Formica M, et al.

Neurology 2021; (96(9)):e1319-e1333 doi:10.1212/WNL.0000000000011237.

Gastroesophageal Reflux Disease: A Review.

Maret-Ouda J, Markar SR, Lagergren J

JAMA 2020; (324(24)):2536-2547 doi:10.1001/jama.2020.21360.

Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report.

Saado S, Bara A, Abdallah Y

Annals of medicine and surgery (2012) 2021; (66()):102447 doi:10.1016/j.amsu.2021.102447.

Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome.

Sanchez MAR, Cervenka MC, Bessone SK, Kossoff EH

Journal of child neurology 2021; (36(11)):1007-1010 doi:10.1177/08830738211023335.

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Pomar L, Ochoa J, Cabet S, et al.

Prenatal diagnosis 2022; (42(4)):484-494 doi:10.1002/pd.6085.

The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.

Hajtovic S, LoPresti MA, Zhang L, et al.

Journal of neurosurgery. Pediatrics 2022; (29(6)):667-680 doi:10.3171/2022.1.PEDS222.

A rare case of bilateral vitreoretinopathy of Aicardi syndrome.

Yu-Chuan Kang E, Chong YJ, Lien R, Wu WC

American journal of ophthalmology case reports 2022; (26()):101467 doi:10.1016/j.ajoc.2022.101467.

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.

Zuberi SM, Wirrell E, Yozawitz E, et al.

Epilepsia 2022; (63(6)):1349-1397 doi:10.1111/epi.17239.

Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.

Strzelczyk A, Schubert-Bast S

CNS drugs 2022; (36(10)):1079-1111 doi:10.1007/s40263-022-00955-9.

Gastroesophageal Reflux Disease in a One-Week-Old Infant Presenting With Cyanosis and Respiratory Distress.

Ledersnaider M, Kreilein N, Triplett R, Peterman NJ

Cureus 2022; (14(9)):e29632 doi:10.7759/cureus.29632.

Ocular features in Aicardi syndrome: A case report.

Sirek S, Filipek E, Wójcik-Niklewska B, et al.

Medicine 2022; (101(49)):e31950 doi:10.1097/MD.0000000000031950.

Therapeutic positioning to address neuromuscular scoliosis on an adolescent child with Aicardi syndrome: a case study.

Kittelson T, Coombs NC

Assistive technology : the official journal of RESNA 2023; (35(6)):506-512 doi:10.1080/10400435.2023.2179684.

Pediatric Status Epilepticus: Treat Early and Avoid Delays.

Morgan LA, Hrachovec JB, Goodkin HP

Paediatric drugs 2023; (25(4)):411-424 doi:10.1007/s40272-023-00570-1.

Safety of Diazepam Nasal Spray in Pediatric Patients With Developmental Epileptic Encephalopathies: Results From a Long-term Phase 3 Safety Study.

Tarquinio D, Wheless JW, Segal EB, et al.

Journal of child neurology 2023; (38(6-7)):389-393 doi:10.1177/08830738231185424.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha TT, Burgess R, Newman M, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081565.

Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.

Na'uzo AM, Tahir A, Lawal TO, et al.

Journal of the National Medical Association 2023; (115(5)):496-499 doi:10.1016/j.jnma.2023.08.001.

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.

Population-based study of rare epilepsy incidence in a US urban population.

Barbour K, Tian N, Yozawitz EG, et al.

Epilepsia 2024; (65(8)):2341-2353 doi:10.1111/epi.18029.

Sleep disorders in pediatric patients with agenesis of the corpus callosum.

Kwon A, Gu PK, Zhang C, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2024; (20(10)):1663-1667 doi:10.5664/jcsm.11234.

Developmental and epileptic encephalopathies.

Scheffer IE, Zuberi S, Mefford HC, et al.

Nature reviews. Disease primers 2024; (10(1)):61 doi:10.1038/s41572-024-00546-6.

Japanese guidelines for treatment of pediatric status epilepticus - 2023.

Kikuchi K, Kuki I, Nishiyama M, et al.

Brain & development 2025; (47(1)):104306 doi:10.1016/j.braindev.2024.104306.

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

Urban OY, Driedger JH, Garbade SF, et al.

Orphanet journal of rare diseases 2024; (19(1)):457 doi:10.1186/s13023-024-03375-8.

Pulmonary Aspiration Syndromes: An Imaging-based Review.

Chandola S, Bhalla AS, Jana M, et al.

Journal of thoracic imaging 2025; (40(4)) doi:10.1097/RTI.0000000000000821.

Adult phenotypes of genetic developmental and epileptic encephalopathies.

Vakrinou A, Pagni S, Mills JD, et al.

Brain communications 2025; (7(1)):fcaf028 doi:10.1093/braincomms/fcaf028.

Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies.

Kelada L, Best S, Pierce K, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (54()):147-158 doi:10.1016/j.ejpn.2025.01.007.

Management of Developmental and Epileptic Encephalopathies.

Vasquez A, Fine AL

Seminars in neurology 2025; (45(2)):206-220 doi:10.1055/a-2534-3267.

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Masnada S, De Giorgis V, Carugo U, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (60()):58-70 doi:10.1016/j.ejpn.2025.11.004.

An updated overview on clinical and developmental trajectories of developmental and epileptic encephalopathies: From childhood to adulthood.

Mastrangelo M, Bonaventura CD, Lentini G, Pisani F

Seizure 2025; (134()):190-197 doi:10.1016/j.seizure.2025.12.009.

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Amanallah MR, Chraa M, Louhab N, Balili K

Cureus 2025; (17(12)):e99822 doi:10.7759/cureus.99822.

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Ingram H, Knighton K, Skalka N, Chappell D

Cureus 2026; (18(7)):e112585 doi:10.7759/cureus.112585.