Research & Literature

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, et al.

Molecular psychiatry 2016; (21(1)):133-48 doi:10.1038/mp.2014.193.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, et al.

Molecular psychiatry 2018; (23(2)):222-230 doi:10.1038/mp.2016.135.

Rescue Medications in Epilepsy Patients: A Family Perspective.

Gaínza-Lein M, Benjamin R, Stredny C, et al.

Seizure 2017; (52()):188-194 doi:10.1016/j.seizure.2017.10.007.

Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.

McTague A, Martland T, Appleton R

The Cochrane database of systematic reviews 2018; (1()):CD001905 doi:10.1002/14651858.CD001905.pub3.

Treatment Strategies for Dravet Syndrome.

Knupp KG, Wirrell EC

CNS drugs 2018; (32(4)):335-350 doi:10.1007/s40263-018-0511-y.

Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome.

Roche KJ, LeBlanc JJ, Levin AR, et al.

Journal of neurodevelopmental disorders 2019; (11(1)):15 doi:10.1186/s11689-019-9275-z.

Randomized Trial of Three Anticonvulsant Medications for Status Epilepticus.

Kapur J, Elm J, Chamberlain JM, et al.

The New England journal of medicine 2019; (381(22)):2103-2113 doi:10.1056/NEJMoa1905795.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

Rochtus A, Olson HE, Smith L, et al.

Epilepsia 2020; (61(2)):249-258 doi:10.1111/epi.16427.

Capturing seizures in clinical trials of antiseizure medications for KCNQ2-DEE.

Millichap JJ, Harden CL, Dlugos DJ, et al.

Epilepsia open 2021; (6(1)):38-44 doi:10.1002/epi4.12466.

Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.

Bose S, He H, Stauber T

Frontiers in cell and developmental biology 2021; (9()):639231 doi:10.3389/fcell.2021.639231.

The molecular and phenotypic spectrum of CLCN4-related epilepsy.

He H, Guzman RE, Cao D, et al.

Epilepsia 2021; (62(6)):1401-1415 doi:10.1111/epi.16906.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Duncan AR, Polovitskaya MM, Gaitán-Peñas H, et al.

American journal of human genetics 2021; (108(8)):1450-1465 doi:10.1016/j.ajhg.2021.06.003.

Clinical Management of Drug Resistant Epilepsy: A Review on Current Strategies.

Guery D, Rheims S

Neuropsychiatric disease and treatment 2021; (17()):2229-2242 doi:10.2147/NDT.S256699.

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.

Xu X, Lu F, Zhang L, et al.

BMC pediatrics 2021; (21(1)):384 doi:10.1186/s12887-021-02860-4.

Prehospital Pediatric Respiratory Distress and Airway Management Interventions: An NAEMSP Position Statement and Resource Document.

Harris M, Lyng JW, Mandt M, et al.

Prehospital emergency care 2022; (26(sup1)):118-128 doi:10.1080/10903127.2021.1994675.

Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.

Juneja M, Gupta A, Sairam S, et al.

Indian pediatrics 2022; (59(5)):401-415.

Survey About Second-Line Agents for Pediatric Convulsive Status Epilepticus.

Tyson M, Trenear R, Skellett S, et al.

Pediatric emergency care 2023; (39(4)):247-252 doi:10.1097/PEC.0000000000002745.

A Multicenter Study of Adherence to Best Practices and Application of Epilepsy Quality Metrics in a Pediatric Telemedicine Encounter.

Joshi CN, Miller JS, Silveira LJ, et al.

Journal of child neurology 2022; (37(8-9)):744-748 doi:10.1177/08830738221099730.

Genomics in the presurgical epilepsy evaluation.

Moloney PB, Dugan P, Widdess-Walsh P, et al.

Epilepsy research 2022; (184()):106951 doi:10.1016/j.eplepsyres.2022.106951.

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.

Guzman RE, Sierra-Marquez J, Bungert-Plümke S, et al.

Frontiers in molecular neuroscience 2022; (15()):872407 doi:10.3389/fnmol.2022.872407.

Optimal Management of Status Epilepticus in Children in the Emergency Setting: A Review of Recent Advances.

Messahel S, Bracken L, Appleton R

Open access emergency medicine : OAEM 2022; (14()):491-506 doi:10.2147/OAEM.S293258.

Opportunities for Community Pharmacists to Counsel Patients With Epilepsy and Seizure Clusters to Overcome Barriers and Foster Appropriate Treatment.

Gidal B, Welty T, Cokley J, et al.

Journal of pharmacy practice 2024; (37(1)):190-197 doi:10.1177/08971900221126570.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Palmer EE, Pusch M, Picollo A, et al.

Molecular psychiatry 2023; (28(2)):668-697 doi:10.1038/s41380-022-01852-9.

Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.

Rossi J, Russo M, Gobbi G, et al.

Brain & development 2023; (45(8)):445-450 doi:10.1016/j.braindev.2023.05.004.

Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.

Lam Z, Wall E, Ryan G, et al.

Prenatal diagnosis 2023; (43(9)):1247-1250 doi:10.1002/pd.6404.

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

Li S, Zhang W, Liang P, et al.

Frontiers in neurology 2023; (14()):1096969 doi:10.3389/fneur.2023.1096969.

Benzodiazepines for the Treatment of Seizure Clusters.

Penovich PE, Rao VR, Long L, et al.

CNS drugs 2024; (38(2)):125-140 doi:10.1007/s40263-023-01060-1.

Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder.

Sager G, Yukselmis U, Güzel O, et al.

Balkan journal of medical genetics : BJMG 2023; (26(2)):77-82 doi:10.2478/bjmg-2023-0013.

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

Sahly AN, Sierra-Marquez J, Bungert-Plümke S, et al.

Human genetics 2024; (143(5)):667-681 doi:10.1007/s00439-024-02668-z.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

He H, Li X, Guzman GA, et al.

Journal of neurology 2024; (271(8)):4933-4948 doi:10.1007/s00415-024-12383-4.

Seizure control via pH manipulation: a phase II double-blind randomised controlled trial of inhaled carbogen as adjunctive treatment of paediatric convulsive status epilepticus (Carbogen for Status Epilepticus in Children Trial (CRESCENT)).

Forsyth R, Allen M, Bedson E, et al.

Trials 2024; (25(1)):349 doi:10.1186/s13063-024-08188-5.

Emergent Management of Status Epilepticus.

Rubinos C

Continuum (Minneapolis, Minn.) 2024; (30(3)):682-720 doi:10.1212/CON.0000000000001445.

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Mastrangelo M, Greco C, Tolve M, et al.

Seizure 2024; (119()):119-127 doi:10.1016/j.seizure.2024.06.002.

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.

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

Sevinc G, Knox K, George M, et al.

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2025; (28(3)):441-448 doi:10.1016/j.jval.2024.12.004.

Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model: endophenotypic target for ASD.

Lee SM, Choi Y, Kim D, et al.

Translational psychiatry 2025; (15(1)):28 doi:10.1038/s41398-024-03201-6.

Treatment of convulsive status epilepticus in Brazil: a review.

Caboclo LO

Arquivos de neuro-psiquiatria 2025; (83(1)):1-10 doi:10.1055/s-0045-1801872.

Structural basis of ClC-3 transporter inhibition by TMEM9 and PtdIns(3,5)P2.

Schrecker M, Son Y, Planells-Cases R, et al.

Nature structural & molecular biology 2025; (32(10)):1972-1979 doi:10.1038/s41594-025-01617-2.

CLCN4 -Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities.

Garrett A, Kalscheuer VM, Figueroa RR, et al.

American journal of medical genetics. Part A 2025; (197(12)):e64192 doi:10.1002/ajmg.a.64192.

Clinical features and genetic analysis of epilepsy caused by CLCN4 gene mutation: a case report and literature review.

Mao DD, Li SX, Hu WG, Chen H

Translational pediatrics 2025; (14(7)):1717-1725 doi:10.21037/tp-2025-157.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

Milone R, Orsini A, Marinella G, et al.

Genes 2026; (17(6)) doi:10.3390/genes17060623.

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals.

Katyayan A, Briscoe C, Bhalla S, et al.

Epilepsia open 2026; doi:10.1002/epi4.70309.

Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.

Klein Haneveld MJ, Cox L, Embregts PJCM, et al.

Journal of intellectual disability research : JIDR 2026; (70(9)):913-922 doi:10.1111/jir.70150.

Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.

Lustig MC

Journal of child neurology 2026; 8830738261472511 doi:10.1177/08830738261472511.