Research & Literature

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

Gürsoy S, Erçal D

Journal of child neurology 2016; (31(4)):523-32 doi:10.1177/0883073815599262.

A population-based post mortem study of sudden unexpected death in epilepsy.

Clark D, Riney K

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2016; (23()):58-62 doi:10.1016/j.jocn.2015.04.027.

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1.

Della Sala G, Putignano E, Chelini G, et al.

Biological psychiatry 2016; (80(4)):302-311 doi:10.1016/j.biopsych.2015.08.028.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA

Epileptic disorders : international epilepsy journal with videotape 2015; (17(4)):467-72 doi:10.1684/epd.2015.0784.

Dravet Syndrome: Diagnosis and Long-Term Course.

Connolly MB

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2016; (43 Suppl 3()):S3-8 doi:10.1017/cjn.2016.243.

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.

Sun Y, Paşca SP, Portmann T, et al.

eLife 2016; (5()).

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Shbarou R, Mikati MA

Seminars in pediatric neurology 2016; (23(2)):134-42.

Heterozygous STXBP1 Mutations Associated With Ohtahara Syndrome: Two Littles Make a Lot.

Nieto-Estévez V, Hsieh J

Epilepsy currents 2016; (16(5)):330-332 doi:10.5698/1535-7511-16.5.330.

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

Dilena R, Striano P, Gennaro E, et al.

Brain & development 2017; (39(4)):345-348 doi:10.1016/j.braindev.2016.10.015.

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Alejandra Restrepo-Cordoba M, Campuzano O, Ripoll-Vera T, et al.

Journal of cardiovascular translational research 2017; (10(1)):35-46 doi:10.1007/s12265-017-9730-8.

CDKL5 deficiency entails sleep apneas in mice.

Lo Martire V, Alvente S, Bastianini S, et al.

Journal of sleep research 2017; (26(4)):495-497 doi:10.1111/jsr.12512.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, et al.

Brain : a journal of neurology 2017; (140(5)):1316-1336 doi:10.1093/brain/awx054.

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.

Devinsky O, Cross JH, Laux L, et al.

The New England journal of medicine 2017; (376(21)):2011-2020 doi:10.1056/NEJMoa1611618.

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

Lim Z, Wong K, Olson HE, et al.

Epilepsia 2017; (58(8)):1415-1422 doi:10.1111/epi.13813.

Nocturnal seizures are associated with more severe hypoxemia and increased risk of postictal generalized EEG suppression.

Latreille V, Abdennadher M, Dworetzky BA, et al.

Epilepsia 2017; (58(9)):e127-e131 doi:10.1111/epi.13841.

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.

Sha YK, Sha YW, Mei LB, et al.

Gene 2017; (634()):1-4 doi:10.1016/j.gene.2017.08.040.

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, et al.

Journal of the American College of Cardiology 2018; (72(6)):662-680 doi:10.1016/j.jacc.2018.05.044.

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

Pons L, Lesca G, Sanlaville D, et al.

Epileptic disorders : international epilepsy journal with videotape 2018; (20(4)):289-294 doi:10.1684/epd.2018.0988.

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.

Kuersten M, Tacke M, Gerstl L, et al.

European journal of medical genetics 2020; (63(1)):103628 doi:10.1016/j.ejmg.2019.02.001.

Haematologists and palliative care: a multicentric qualitative study.

Tricou C, Munier S, Phan-Hoang N, et al.

BMJ supportive & palliative care 2022; (12(e6)):e798-e802 doi:10.1136/bmjspcare-2018-001714.

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Denis J, Villeneuve N, Cacciagli P, et al.

Epilepsia 2019; (60(5)):845-856 doi:10.1111/epi.14727.

Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.

Leone A, De Amicis R, Lessa C, et al.

Nutrients 2019; (11(5)) doi:10.3390/nu11051104.

Stiripentol: A Novel Antiseizure Medication for the Management of Dravet Syndrome.

Buck ML, Goodkin HP

The Annals of pharmacotherapy 2019; (53(11)):1136-1144 doi:10.1177/1060028019856008.

Association of quality of paediatric epilepsy care with mortality and unplanned hospital admissions among children and young people with epilepsy in England: a national longitudinal data linkage study.

Hargreaves DS, Arora S, Viveiro C, et al.

The Lancet. Child & adolescent health 2019; (3(9)):627-635 doi:10.1016/S2352-4642(19)30201-9.

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Demarest ST, Olson HE, Moss A, et al.

Epilepsia 2019; (60(8)):1733-1742 doi:10.1111/epi.16285.

Dravet Syndrome: An Overview.

Anwar A, Saleem S, Patel UK, et al.

Cureus 2019; (11(6)):e5006 doi:10.7759/cureus.5006.

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Laccetta G, Fiori S, Giampietri M, et al.

Frontiers in pediatrics 2019; (7()):348 doi:10.3389/fped.2019.00348.

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.

Kadam SD, Sullivan BJ, Goyal A, et al.

International journal of molecular sciences 2019; (20(20)) doi:10.3390/ijms20205098.

Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.

Kim HJ, Yang D, Kim SH, et al.

Epilepsy research 2019; (158()):106222 doi:10.1016/j.eplepsyres.2019.106222.

Recommendations for the management of renal involvement in the tuberous sclerosis complex.

Ariceta G, Buj MJ, Furlano M, et al.

Nefrologia 2020; (40(2)):142-151 doi:10.1016/j.nefro.2019.07.002.

SCN2A channelopathies: Mechanisms and models.

Hedrich UBS, Lauxmann S, Lerche H

Epilepsia 2019; (60 Suppl 3()):S68-S76 doi:10.1111/epi.14731.

SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.

Mantegazza M, Broccoli V

Epilepsia 2019; (60 Suppl 3()):S25-S38 doi:10.1111/epi.14700.

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy.

Jakimiec M, Paprocka J, Śmigiel R

Brain sciences 2020; (10(2)) doi:10.3390/brainsci10020107.

Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.

Değerliyurt A, Kesen GG, Ceylaner S

The Turkish journal of pediatrics 2019; (61(5)):757-759.

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.

Na JH, Shin S, Yang D, et al.

Brain & development 2020; (42(6)):438-448 doi:10.1016/j.braindev.2020.02.004.

Cardiac arrhythmias in Dravet syndrome: an observational multicenter study.

Shmuely S, Surges R, Helling RM, et al.

Annals of clinical and translational neurology 2020; (7(4)):462-473 doi:10.1002/acn3.51017.

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

Khan SA, Khan MA, Muhammad N, et al.

BMC medical genetics 2020; (21(1)):97 doi:10.1186/s12881-020-01038-6.

Use of Remote Monitoring by E-mail for Long-Term Management of the Classic Ketogenic Diet.

Ferraris C, Guglielmetti M, Tamagni E, et al.

Nutrients 2020; (12(6)) doi:10.3390/nu12061833.

Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.

Melikishvili G, Dulac O, Gataullina S

Epilepsy & behavior : E&B 2020; (111()):107187 doi:10.1016/j.yebeh.2020.107187.

Association between palliative care and healthcare outcomes among adults with terminal non-cancer illness: population based matched cohort study.

Quinn KL, Stukel T, Stall NM, et al.

BMJ (Clinical research ed.) 2020; (370()):m2257 doi:10.1136/bmj.m2257.

Wearable seizure detection devices in refractory epilepsy.

Verdru J, Van Paesschen W

Acta neurologica Belgica 2020; (120(6)):1271-1281 doi:10.1007/s13760-020-01417-z.

Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.

Tanaka R, Takahashi S, Kuroda M, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(4)):501-505 doi:10.1684/epd.2020.1187.

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Minardi R, Licchetta L, Baroni MC, et al.

Clinical genetics 2020; (98(5)):477-485 doi:10.1111/cge.13823.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Rymen D, Lindhout M, Spanou M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(10)):1589-1597 doi:10.1038/s41436-020-0933-z.

Determinants of overburdening among informal carers: a systematic review.

Lindt N, van Berkel J, Mulder BC

BMC geriatrics 2020; (20(1)):304 doi:10.1186/s12877-020-01708-3.

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.

Han Z, Chen C, Christiansen A, et al.

Science translational medicine 2020; (12(558)) doi:10.1126/scitranslmed.aaz6100.

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS, Sabiá Júnior EF, Tibery DV, et al.

Frontiers in pharmacology 2020; (11()):1276 doi:10.3389/fphar.2020.01276.

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Sonnek B, Döring JH, Mütze U, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (30()):121-127 doi:10.1016/j.ejpn.2020.10.010.

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.

Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.

Wang W, Frankel WN

Neurobiology of disease 2021; (148()):105220 doi:10.1016/j.nbd.2020.105220.

Efficacy and safety of fenfluramine in patients with Dravet syndrome: A meta-analysis.

Zhang L, Li W, Wang C

Acta neurologica Scandinavica 2021; (143(4)):339-348 doi:10.1111/ane.13387.

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

André MV, Cacciagli P, Cano A, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021; (28(1)):87-92 doi:10.1016/j.arcped.2020.10.015.

Inappropriate end-of-life cancer care in a generalist and specialist palliative care model: a nationwide retrospective population-based observational study.

Boddaert MS, Pereira C, Adema J, et al.

BMJ supportive & palliative care 2022; (12(e1)):e137-e145 doi:10.1136/bmjspcare-2020-002302.

The probability of sudden unexpected death in epilepsy given postictal prone position.

Esmaeili B, Dworetzky BA, Glynn RJ, Lee JW

Epilepsy & behavior : E&B 2021; (116()):107775 doi:10.1016/j.yebeh.2021.107775.

Postictal Death Is Associated with Tonic Phase Apnea in a Mouse Model of Sudden Unexpected Death in Epilepsy.

Wenker IC, Teran FA, Wengert ER, et al.

Annals of neurology 2021; (89(5)):1023-1035 doi:10.1002/ana.26053.

Autonomic Characteristics of Sudden Unexpected Death in Epilepsy in Children-A Systematic Review of Studies and Their Relevance to the Management of Epilepsy in Rett Syndrome.

Singh J, Lanzarini E, Santosh P

Frontiers in neurology 2020; (11()):632510 doi:10.3389/fneur.2020.632510.

Developmental and epileptic encephalopathies: recognition and approaches to care.

Raga S, Specchio N, Rheims S, Wilmshurst JM

Epileptic disorders : international epilepsy journal with videotape 2021; (23(1)):40-52 doi:10.1684/epd.2021.1244.

SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation.

Negishi Y, Aoki Y, Itomi K, et al.

Brain & development 2021; (43(7)):804-808 doi:10.1016/j.braindev.2021.03.004.

SCN8A Encephalopathy: Case Report and Literature Review.

Fan HC, Lee HF, Chi CS

Neurology international 2021; (13(2)):143-150 doi:10.3390/neurolint13020014.

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.

Darra F, Lo Barco T, Opri R, et al.

Neurology. Genetics 2021; (7(3)):e593 doi:10.1212/NXG.0000000000000593.

Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy.

Beck VC, Isom LL, Berg AT

The Journal of pediatrics 2021; (237()):41-49.e1 doi:10.1016/j.jpeds.2021.06.034.

Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.

Li L, Chu C, Li S, et al.

Fertility and sterility 2021; (116(5)):1360-1369 doi:10.1016/j.fertnstert.2021.06.033.

Tremor-like subcortical myoclonus in STXBP1 encephalopathy.

Loussouarn A, Doummar D, Beaugendre Y, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (34()):62-66 doi:10.1016/j.ejpn.2021.06.005.

The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: Results from twenty years of a national screening program in Norway.

Leren TP, Bogsrud MP

Journal of clinical lipidology 2021; (15(5)):674-681 doi:10.1016/j.jacl.2021.08.007.

Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.

Brock D, Fidell A, Thomas J, et al.

Journal of child neurology 2021; (36(11)):974-980 doi:10.1177/08830738211019284.

Autonomic manifestations of epilepsy: emerging pathways to sudden death?

Thijs RD, Ryvlin P, Surges R

Nature reviews. Neurology 2021; (17(12)):774-788 doi:10.1038/s41582-021-00574-w.

Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas.

Masri AT, Nasir A, Irshaid F, et al.

Autism : the international journal of research and practice 2022; (26(6)):1491-1498 doi:10.1177/13623613211055535.

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.

Li M, Jancovski N, Jafar-Nejad P, et al.

The Journal of clinical investigation 2021; (131(23)).

Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.

Peng BW, Tian Y, Chen L, et al.

Brain : a journal of neurology 2022; (145(4)):e24-e27 doi:10.1093/brain/awac038.

A Treatable Genetic Disease Caused by CAD Mutation.

Peng X, Xia LP, Zhang HJ, et al.

Frontiers in pediatrics 2022; (10()):771374 doi:10.3389/fped.2022.771374.

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

Hieu NLT, Thu NTM, Ngan LTA, et al.

American journal of medical genetics. Part A 2022; (188(7)):2048-2060 doi:10.1002/ajmg.a.62741.

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.

Mehinovic E, Gray T, Campbell M, et al.

American journal of medical genetics. Part A 2022; (188(7)):2071-2081 doi:10.1002/ajmg.a.62743.

Long-term outcome of developmental and epileptic encephalopathies.

Van Bogaert P

Revue neurologique 2022; (178(7)):659-665 doi:10.1016/j.neurol.2022.01.009.

Ganaxolone: First Approval.

Lamb YN

Drugs 2022; (82(8)):933-940 doi:10.1007/s40265-022-01724-0.

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y, Yuan M, Luo H, et al.

Molecular genetics & genomic medicine 2022; (10(7)):e1991 doi:10.1002/mgg3.1991.

Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.

Chouery E, Mehawej C, Sabbagh S, et al.

European journal of neurology 2022; (29(8)):2486-2492 doi:10.1111/ene.15424.

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.

Developmental and Epileptic Encephalopathies in Adults: An Evolving Field.

Gorodetsky C, Fasano A

Neurology 2022; (99(3)):89-91 doi:10.1212/WNL.0000000000200190.

Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies.

Zimmern V, Korff C

Current opinion in pediatrics 2022; (34(6)):538-543 doi:10.1097/MOP.0000000000001170.

Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.

Wang YY, Zhou YQ, Luo LJ, et al.

World journal of pediatrics : WJP 2024; (20(5)):517-524 doi:10.1007/s12519-022-00620-7.

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.

Dilber C, Yücel G, Şahin Y

Clinical neurology and neurosurgery 2022; (223()):107509 doi:10.1016/j.clineuro.2022.107509.

Solute carrier transporter disease and developmental and epileptic encephalopathy.

Gan Y, Wei Z, Liu C, et al.

Frontiers in neurology 2022; (13()):1013903 doi:10.3389/fneur.2022.1013903.

An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.

Feringa FM, van Berkel AA, Nair A, Verhage M

The Journal of neuroscience : the official journal of the Society for Neuroscience 2023; (43(3)):347-358 doi:10.1523/JNEUROSCI.0611-22.2022.

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.

Shi P, Liang H, Hou Y, et al.

American journal of obstetrics and gynecology 2023; (229(2)):170.e1-170.e8 doi:10.1016/j.ajog.2023.01.022.

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.

Darra F, Monchelato M, Loos M, et al.

Epilepsy research 2023; (190()):107098 doi:10.1016/j.eplepsyres.2023.107098.

Ganaxolone: First FDA-approved Medicine for the Treatment of Seizures Associated with Cyclin-dependent Kinase-like 5 Deficiency Disorder.

De SK

Current medicinal chemistry 2024; (31(4)):388-392 doi:10.2174/0929867330666230320123952.

Waiting to Inhale: Preventing Fatality From Seizure-Induced Apnea.

Wenker IC, Patel MK

Epilepsy currents 2023; (23(3)):185-187 doi:10.1177/15357597231159466.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Thalwitzer KM, Driedger JH, Xian J, et al.

Neurology 2023; (101(9)):e879-e891 doi:10.1212/WNL.0000000000207550.

First report of Tunisian patients with CDKL5-related encephalopathy.

Charfi Triki C, Zouari Mallouli S, Ben Jdila M, et al.

Epilepsia open 2024; (9(3)):906-917 doi:10.1002/epi4.12824.

Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model.

Yuan Y, Lopez-Santiago L, Denomme N, et al.

Brain : a journal of neurology 2024; (147(4)):1231-1246 doi:10.1093/brain/awad349.

Sudden unexpected death in epilepsy disclosure causes anxiety in patients with epilepsy: a Chinese questionnaire survey.

Pan Y, Hu G, Wang Z, et al.

Frontiers in neurology 2023; (14()):1284050 doi:10.3389/fneur.2023.1284050.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Parmeggiani L, Stanzial F, Menna E, et al.

Epilepsy & behavior reports 2023; (24()):100634 doi:10.1016/j.ebr.2023.100634.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Licchetta L, Di Giorgi L, Santucci M, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2311 doi:10.1002/mgg3.2311.

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.

Bayat A, Iavarone S, Miceli F, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2024; (21(1)):e00296 doi:10.1016/j.neurot.2023.10.006.

Transitional Care Navigation.

Rodriguez AL, Cappelletti L, Kurian SM, et al.

Seminars in oncology nursing 2024; (40(2)):151580 doi:10.1016/j.soncn.2024.151580.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Saracino A, Totaro M, Politano D, et al.

Neuropediatrics 2024; (55(2)):129-134 doi:10.1055/s-0044-1779613.

Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.

André T, van Berkel AA, Singh G, et al.

Biological psychiatry 2024; (96(2)):125-136 doi:10.1016/j.biopsych.2024.03.007.

Enhancing the action of serotonin by three different mechanisms prevents spontaneous seizure-induced mortality in Dravet mice.

Guo J, Min D, Farrell EK, et al.

Epilepsia 2024; (65(6)):1791-1800 doi:10.1111/epi.17966.

Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.

Luiza Benevides M, de Moraes HT, Granados DMM, et al.

Epilepsy & behavior : E&B 2024; (155()):109762 doi:10.1016/j.yebeh.2024.109762.

Clinical analysis of developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: A single tertiary care center experience in China.

Zhang Y, Li C, Zhou Y, et al.

Seizure 2024; (119()):52-57 doi:10.1016/j.seizure.2024.05.012.

Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice.

Wirrell EC, Lagae L, Scheffer IE, et al.

Epilepsia open 2024; (9(5)):1643-1657 doi:10.1002/epi4.12998.

Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.

Yu W, Hill SF, Zhu L, et al.

Neurobiology of disease 2024; (199()):106591 doi:10.1016/j.nbd.2024.106591.

Potentially Inappropriate End of Life Care and Healthcare Costs in the Last 30 Days of Life in Regions Providing Integrated Palliative Care in the Netherlands: A Registration-based Study.

Pereira CFR, Dijxhoorn AQ, Koekoek B, et al.

International journal of integrated care 2024; (24(3)):6 doi:10.5334/ijic.7504.

Timely integration of palliative care. the reality check. a retrospective analysis.

Adamidis F, Baumgartner NS, Kitta A, et al.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2024; (32(8)):518 doi:10.1007/s00520-024-08721-x.

Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.

You Y, Wu W, Du Y, et al.

Molecular genetics & genomic medicine 2024; (12(8)):e2500 doi:10.1002/mgg3.2500.

Patients' and Providers' Perspectives of the Transition of Care from Hospital to Community for Hispanic/Latino Adults with Diabetes.

Padilla BI, Granados E, Corsino L

Hispanic health care international : the official journal of the National Association of Hispanic Nurses 2025; (23(2)):85-93 doi:10.1177/15404153241269473.

How Encephalopathy Impacts Language Ability: A Scoping Review of the Linguistic Abilities of Adults with Developmental and Epileptic Encephalopathy.

Papatheodorou I, Stavrakaki S, Koukoulioti V, et al.

Medicina (Kaunas, Lithuania) 2024; (60(10)) doi:10.3390/medicina60101635.

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation.

Teplyshova A, Sharkov A

Frontiers in genetics 2024; (15()):1477466 doi:10.3389/fgene.2024.1477466.

Pharmacotherapeutic strategies for drug-resistant epilepsy in children.

Auvin S, Specchio N

Epilepsy & behavior : E&B 2024; (161()):110139 doi:10.1016/j.yebeh.2024.110139.

Diagnostic value of EEG after a first unprovoked seizure in adults - A population-based study.

Joelsson S, Andersson K, Brannefors P, et al.

Epilepsy & behavior : E&B 2025; (162()):110151 doi:10.1016/j.yebeh.2024.110151.

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

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