Research & Literature

A comparative study of educational provision for children with neurogenetic syndromes: parent and teacher survey.

Reilly C, Senior J, Murtagh L

Journal of intellectual disability research : JIDR 2015; (59(12)):1094-107 doi:10.1111/jir.12210.

[Management of pediatric status epilepticus].

Vargas L CP, Varela E X, Kleinsteuber S K, et al.

Revista medica de Chile 2016; (144(1)):83-93.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, et al.

Neurology 2016; (87(1)):77-85 doi:10.1212/WNL.0000000000002807.

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

Appavu B, Guido-Estrada N, Lindstrom K, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(3)):324-8 doi:10.1684/epd.2016.0849.

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

Shukla A, Upadhyai P, Shah J, et al.

European journal of medical genetics 2017; (60(2)):118-123 doi:10.1016/j.ejmg.2016.11.006.

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Ragona F, Castellotti B, Salis B, et al.

Seizure 2017; (47()):71-73 doi:10.1016/j.seizure.2017.03.003.

Efficacy of ankle foot orthoses types on walking in children with cerebral palsy: A systematic review.

Aboutorabi A, Arazpour M, Ahmadi Bani M, et al.

Annals of physical and rehabilitation medicine 2017; (60(6)):393-402 doi:10.1016/j.rehab.2017.05.004.

[Differential diagnosis of paroxysms of tonic muscle tension in children of early age with delay of psychomotor development and abnormal neurologic status].

Mironov MB, Bobylova MY, Nekrasova IV, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2017; (117(6)):4-9 doi:10.17116/jnevro2017117614-9.

Seizure clustering during presurgical electroencephalographic monitoring in children.

Fung FW, Libenson MH, Bolton J, et al.

Epilepsy & behavior : E&B 2018; (80()):291-295 doi:10.1016/j.yebeh.2018.01.013.

Testing for Inborn Errors of Metabolism.

Kwon JM

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):37-56 doi:10.1212/CON.0000000000000563.

Psychosocial Functioning in Parents of MPS III Patients.

Conijn T, Nijmeijer SCM, van Oers HA, et al.

JIMD reports 2019; (44()):33-41 doi:10.1007/8904_2018_119.

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Zagnoli-Vieira G, Bruni F, Thompson K, et al.

Neurology. Genetics 2018; (4(4)):e262 doi:10.1212/NXG.0000000000000262.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

[Clinical phenotypes of TBC1D24 gene related epilepsy].

Zhang J, Zhang YH, Chen JY, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(9)):667-673 doi:10.3760/cma.j.issn.0578-1310.2018.09.007.

[Status epilepticus].

Buompadre MC

Medicina 2018; (78 Suppl 2()):12-17.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(6)):1308-1318 doi:10.1038/s41436-018-0339-3.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima M, Negishi Y, Hori I, et al.

American journal of medical genetics. Part A 2019; (179(4)):645-649 doi:10.1002/ajmg.a.61056.

Guidelines on the diagnosis and management of the progressive ataxias.

de Silva R, Greenfield J, Cook A, et al.

Orphanet journal of rare diseases 2019; (14(1)):51 doi:10.1186/s13023-019-1013-9.

Communication skills among children with spinal muscular atrophy type 1: A parent survey.

Ball LJ, Chavez S, Perez G, et al.

Assistive technology : the official journal of RESNA 2021; (33(1)):38-48 doi:10.1080/10400435.2019.1586788.

Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Zhang J, Chen J, Zeng Q, et al.

Seizure 2019; (69()):228-234 doi:10.1016/j.seizure.2019.05.010.

Views of professionals about the educational needs of children with neurodevelopmental disorders.

Van Herwegen J, Ashworth M, Palikara O

Research in developmental disabilities 2019; (91()):103422 doi:10.1016/j.ridd.2019.05.001.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Ciaccio C, Castello R, Esposito S, et al.

Cerebellum (London, England) 2019; (18(5)):972-975 doi:10.1007/s12311-019-01069-7.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019; (23(5)):692-706 doi:10.1016/j.ejpn.2019.08.004.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ, Rexach JE, Lee H, et al.

Human mutation 2020; (41(2)):487-501 doi:10.1002/humu.23946.

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.

Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene.

Su T, Yan Y, Xu S, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2020; (80(2)):157-161 doi:10.1002/jdn.10013.

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Ceylan AC, Acar Arslan E, Erdem HB, et al.

Acta neurologica Belgica 2021; (121(6)):1457-1462 doi:10.1007/s13760-020-01328-z.

[Clinical and genetic characteristics of children with STXBP1 encephalopathy].

Cao JJ, Ji XN, Mao YY, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(6)):493-498 doi:10.3760/cma.j.cn112140-20191028-00683.

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Errichiello E, Zagnoli-Vieira G, Rizzi R, et al.

Journal of human genetics 2020; (65(12)):1135-1141 doi:10.1038/s10038-020-0800-4.

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.

Márquez-Caraveo ME, Ibarra-González I, Rodríguez-Valentín R, et al.

Journal of autism and developmental disorders 2021; (51(6)):2124-2131 doi:10.1007/s10803-020-04682-2.

A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.

Algahtani H, Shirah B, Almatrafi S, et al.

Neurological research 2021; (43(2)):141-147 doi:10.1080/01616412.2020.1831331.

Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".

Withers CM, Fleming J, Wallingford CK, et al.

American journal of medical genetics. Part A 2021; (185(1)):105-111 doi:10.1002/ajmg.a.61920.

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.

Stefanski A, Calle-López Y, Leu C, et al.

Epilepsia 2021; (62(1)):143-151 doi:10.1111/epi.16755.

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.

Aldaz CM, Hussain T

International journal of molecular sciences 2020; (21(23)) doi:10.3390/ijms21238922.

Developmental and epileptic encephalopathies: what we do and do not know.

Specchio N, Curatolo P

Brain : a journal of neurology 2021; (144(1)):32-43 doi:10.1093/brain/awaa371.

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.

Ali G, Sadia , Foo JN, et al.

BioMed research international 2021; (2021()):6626015 doi:10.1155/2021/6626015.

Modeling genetic epileptic encephalopathies using brain organoids.

Steinberg DJ, Repudi S, Saleem A, et al.

EMBO molecular medicine 2021; (13(8)):e13610 doi:10.15252/emmm.202013610.

Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.

Kolemen AB, Akyuz E, Toprak A, et al.

Orphanet journal of rare diseases 2021; (16(1)):402 doi:10.1186/s13023-021-02046-2.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S, Oktay Y, Töpf A, et al.

Brain : a journal of neurology 2022; (145(4)):1507-1518 doi:10.1093/brain/awab395.

Assessing Children with Poor Coordination Can Be Tricky - A Review on Ataxia and Ataxia Mimickers and a Study of Three Children with Severe Epilepsy.

Martin S, Salman MS

Journal of multidisciplinary healthcare 2021; (14()):3331-3341 doi:10.2147/JMDH.S251860.

Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy.

Lee HF, Chi CS, Tsai CR

Clinical neurology and neurosurgery 2022; (214()):107142 doi:10.1016/j.clineuro.2022.107142.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

[Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome].

Ju Y, Ji TY

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):578-582 doi:10.3760/cma.j.cn112140-20220316-00210.

Disability and Mortality in Convulsive Status Epilepticus in Children at 3 Months' Follow-Up: A Prospective Study from India.

Pathania V, Guglani V, Azad C, et al.

Journal of neurosciences in rural practice 2022; (13(2)):211-217 doi:10.1055/s-0042-1743212.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE, Bennett CA, Gill D, et al.

Developmental medicine and child neurology 2023; (65(1)):50-57 doi:10.1111/dmcn.15308.

Accidental Falls in Patients with Hyperkinetic Movement Disorders: A Systematic Review.

Homann CN, Homann B, Ivanic G, Urbanic-Purkart T

Tremor and other hyperkinetic movements (New York, N.Y.) 2022; (12()):30 doi:10.5334/tohm.709.

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.

Alvarez C, Grimmel M, Ebrahimi-Fakhari D, et al.

Clinical genetics 2023; (103(5)):566-573 doi:10.1111/cge.14275.

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

Chong SC, Cao Y, Fung ELW, et al.

American journal of medical genetics. Part A 2023; (191(3)):776-785 doi:10.1002/ajmg.a.63074.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Oliver KL, Trivisano M, Mandelstam SA, et al.

Epilepsia 2023; (64(5)):1351-1367 doi:10.1111/epi.17542.

WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12.

Hussain T, Sanchez K, Crayton J, et al.

Progress in neurobiology 2023; (223()):102425 doi:10.1016/j.pneurobio.2023.102425.

Emotional experiences of family caregivers of children with Dravet syndrome.

Domaradzki J, Walkowiak D

Epilepsy & behavior : E&B 2023; (142()):109193 doi:10.1016/j.yebeh.2023.109193.

Cognitive-Based Interventions for Improving Psychological Health and Well-Being for Parents of Children with Developmental Disabilities: A Systematic Review and Meta-analysis.

Li S, Yong Y, Li Y, et al.

Journal of autism and developmental disorders 2024; (54(9)):3316-3335 doi:10.1007/s10803-023-06063-x.

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Cesaroni CA, Pisanò G, Trimarchi G, et al.

Cerebellum (London, England) 2024; (23(5)):1768-1771 doi:10.1007/s12311-023-01617-2.

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Abdennadher M, Inati SK, Rahhal S, et al.

American journal of medical genetics. Part A 2024; (194(2)):337-345 doi:10.1002/ajmg.a.63418.

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.

Çapan ÖY, Türkdoğan D, Atalay S, Çağlayan HS

Seizure 2024; (116()):126-132 doi:10.1016/j.seizure.2023.11.003.

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Vetri L, Calì F, Saccone S, et al.

International journal of molecular sciences 2024; (25(2)) doi:10.3390/ijms25021146.

A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.

Tutus D, Niemitz M, Plener PL, et al.

Orphanet journal of rare diseases 2024; (19(1)):27 doi:10.1186/s13023-024-03029-9.

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.

Zheng Y, She Y, Su Z, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(6)):2881-2885 doi:10.1007/s10072-024-07397-9.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(6)):983-995 doi:10.1002/mds.29754.

[Guide for the treatment of acute altered mental status. Iberoamerican Academy of Pediatric Neurology].

López D, Espinel F, Andrade E, Aguirre AS

Revista de neurologia 2024; (78(8)):229-235 doi:10.33588/rn.7808.2023302.

The Neurocritical Care Examination and Workup.

Wahlster S, Johnson NJ

Continuum (Minneapolis, Minn.) 2024; (30(3)):556-587 doi:10.1212/CON.0000000000001438.

Cerebellar atrophy in genetic epileptic encephalopathies: A cohort study and a systematic review.

Yang YL, Lee HF, Chi CS, et al.

Seizure 2024; (120()):41-48 doi:10.1016/j.seizure.2024.06.013.

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.

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.

Mammadova D, Kraus C, Leis T, et al.

Frontiers in neurology 2024; (15()):1458109 doi:10.3389/fneur.2024.1458109.

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Milne SC, Roberts M, Williams S, et al.

Annals of neurology 2025; (97(3)):409-424 doi:10.1002/ana.27130.

Refining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches.

Auvin S, Arzimanoglou A, Falip M, et al.

Epilepsia open 2025; (10(1)):85-106 doi:10.1002/epi4.13075.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.

Matsugi A, Bando K, Kondo Y, et al.

Frontiers in neurology 2024; (15()):1491142 doi:10.3389/fneur.2024.1491142.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.

Dehghanzad R, Eshaghkhani Y, Saberi M, et al.

European journal of medical genetics 2025; (77()):105036 doi:10.1016/j.ejmg.2025.105036.

WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.

Gao K, Riley LG, Raubenheimer J, et al.

Neurology 2025; (105(6)):e213883 doi:10.1212/WNL.0000000000213883.

Clinical trajectories and medication response in TBC1D24-related epilepsies.

Mondragon E, Magielski JH, Bane B, et al.

Epilepsia 2026; (67(3)):1386-1397 doi:10.1111/epi.70013.

Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome.

Choi HW, Davids L, Reddy K, et al.

Pediatric neurology 2026; (175()):230-233 doi:10.1016/j.pediatrneurol.2025.12.001.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Colona VL, Ceccatelli V, Terracciano A, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (47(1)):58.

Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report.

Liang L, Li R, Ren D, Zhou Y

Cureus 2026; (18(1)):e101655 doi:10.7759/cureus.101655.

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.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Silva MF, Machado Sousa V, Santos RS, et al.

Cureus 2026; (18(1)):e101421 doi:10.7759/cureus.101421.

Duration and determinants of impaired consciousness after febrile status epilepticus in children.

Sameshima T, Yamaguchi H, Sano K, et al.

Epilepsy & behavior : E&B 2026; (180()):111013 doi:10.1016/j.yebeh.2026.111013.

Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study.

Krstić T, Milankov V, Golubović Š

Journal of genetic counseling 2026; (35(3)):e70231 doi:10.1002/jgc4.70231.

WWOX-related developmental and epileptic encephalopathy (WOREE): A case series of seven patients from Argentina.

Guevara J, Touzon MS, Negrete S, et al.

Seizure 2026; (142()):204-211 doi:10.1016/j.seizure.2026.08.027.

A 21-Year Diagnostic Odyssey in TBC1D24-Associated Developmental and Epileptic Encephalopathy With Favorable Response to Corpus Callosotomy: A Case Report.

Pacheco-Abbud A, Pérez-Arzola AA, Martínez Torres AS, et al.

Cureus 2026; (18(8)):e114608 doi:10.7759/cureus.114608.

Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.

Butnariu LI, Grigore E, Schreiner TG, et al.

International journal of molecular sciences 2026; (27(19)) doi:10.3390/ijms27198878.