Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E et al (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58(4):512–521. https://doi.org/10.1111/epi.13709

Article  PubMed  PubMed Central  Google Scholar 

Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E et al (2021) The severe epilepsy syndromes of infancy: a population-based study. Epilepsia 62(2):358–370. https://doi.org/10.1111/epi.16810

Article  PubMed  Google Scholar 

Symonds JD, Zuberi SM, Stewart K, McLellan A, O’Regan M, MacLeod S, Jollands A et al (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain: J Neurol 142(8):2303–2318. https://doi.org/10.1093/brain/awz195

Dawes A, Attipoe S, Mittlesteadt J, Glynn P, Rust S, Debs A, Patel AD (2020) Measuring the impact of epilepsy on families. Epilepsy Behav: E&B 111:107254. https://doi.org/10.1016/j.yebeh.2020.107254

Article  Google Scholar 

Salom R, Aras LM, Piñero J, Duñabeitia JA (2023) Dataset on the psychosocial impact in families with children with developmental and epileptic encephalopathies. Sci Data 10(1):530. https://doi.org/10.1038/s41597-023-02441-3

Article  PubMed  PubMed Central  Google Scholar 

Gallop K, Lloyd AJ, Olt J, Marshall J (2021) Impact of developmental and epileptic encephalopathies on caregivers: a literature review. Epilepsy Behav 124:108324. https://doi.org/10.1016/j.yebeh.2021.108324

Article  PubMed  Google Scholar 

Camfield C, Camfield P (2008) Twenty years after childhood-onset symptomatic generalized epilepsy the social outcome is usually dependency or death: a population-based study. Dev Med Child Neurol 50(11):859–863. https://doi.org/10.1111/j.1469-8749.2008.03165.x

Article  PubMed  Google Scholar 

Sullivan J, Deighton AM, Vila MC, Szabo SM, Maru B, Gofshteyn JS, James ES et al (2022) The clinical, economic, and humanistic burden of Dravet syndrome - a systematic literature review. Epilepsy Behav 130:108661. https://doi.org/10.1016/j.yebeh.2022.108661

Article  PubMed  Google Scholar 

Goodspeed K, Mosca LR, Weitzel NC, Horning K, Simon EW, Pfalzer AC, Xia M, Langer K, Freed A, Bone M, Picone M, Bichell TJV (2023) A draft conceptual model of SLC6A1 neurodevelopmental disorder. Front Neurosci 16:1026065. https://doi.org/10.3389/fnins.2022.1026065

Article  PubMed  PubMed Central  Google Scholar 

García-Bravo C, Martínez-Piédrola RM, García-Bravo S, Rodríguez-Pérez MP, Martín-Gómez AS, Fernández-Gómez G, Palacios-Ceña D (2023) Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews. Eur J Pediatr 183(1):253–262. https://doi.org/10.1007/s00431-023-05285-6

Article  PubMed  Google Scholar 

Salcedo-Perez-Juana M, Palacios-Ceña D, San-Martín-Gómez A, Aledo-Serrano Á, Florencio LL (2023) Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study. Front Pediatr 11(1285377):1–16. https://doi.org/10.3389/fped.2023.1285377

Article  Google Scholar 

Carpenter C, Suto M (2008) Qualitative research for occupational and physical therapists: a practical guide. Wiley-Blackwell Publishing, Oxford

Google Scholar 

Korstjens I, Moser A (2017) Series: Practical guidance to qualitative research. Part 2: Context, research questions and designs. Eur J Gen Pract 23(1):274–279. https://doi.org/10.1080/13814788.2017.1375090

Tong A, Sainsbury P, Craig J (2007) Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care : IJQHC 19(6):349–357. https://doi.org/10.1093/intqhc/mzm042

Article  Google Scholar 

O’Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA (2014) Standards for reporting qualitative research: a synthesis of recommendations. AAMC 89(9):1245–1251. https://doi.org/10.1097/ACM.0000000000000388

Article  Google Scholar 

Moser A, Korstjens I (2018) Series: Practical guidance to qualitative research. Part 3: 521 Sampling, data collection and analysis. EJGP 24(1):9–18. 522. https://doi.org/10.1080/13814788.2017.1375091

Teddlie C, Yu F (2007) Mixed methods sampling: a typology with examples. J Mix Methods Res 525 (1):77–100. https://doi.org/10.1177/1558689806292430

Vasileiou K, Barnett J, Thorpe S, Young T (2018) Characterising and justifying sample size sufficiency in interview-based studies: systematic analysis of qualitative health research over a 15-year period. BMC Med Res Methodol 18(1):148. https://doi.org/10.1186/s12874-018-0594-7

Article  PubMed  PubMed Central  Google Scholar 

Jack SM, Phoenix M (2022) Qualitative health research in the fields of developmental medicine and child neurology. Dev Med Child Neurol 64(7):830–839. https://doi.org/10.1111/dmcn.15182

Article  PubMed  Google Scholar 

Sinoo C, de Lange IM, Westers P, Gunning WB, Jongmans MJ, Brilstra EH (2019) Behavior problems and health-related quality of life in Dravet syndrome. Epilepsy Behav 90:217–227. https://doi.org/10.1016/j.yebeh.2018.11.029

Article  PubMed  Google Scholar 

Nabbout R, Auvin S, Chiron C, Thiele E, Cross H, Scheffer IE, Schneider A et al (2019) Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. Dev Med Child Neurol 61(10):1229–1236. https://doi.org/10.1111/dmcn.14186

Article  PubMed  Google Scholar 

Boyce DM, Devinsky O, Meskis MA (2020) Barriers to transition from pediatric to adult care for patients with Dravet syndrome: a focus group study of caregivers. Epilepsy Behav 109:107096. https://doi.org/10.1016/j.yebeh.2020.107096

Article  PubMed  Google Scholar 

Archibald MM, Ambagtsheer RC, Casey MG, Lawless M (2019) Using zoom videoconferencing for qualitative data collection: perceptions and experiences of researchers and participants. Int J Qual Methods 18. https://doi.org/10.1177/1609406919874596

Hernán-García M, Lineros-González C, Ruiz-Azarola A (2021) Cómo adaptar una investigación cualitativa a contextos de confinamiento [How to adapt qualitative research to confinement contexts]. Gac Sanit 35(3):298–301. https://doi.org/10.1016/j.gaceta.2020.06.007

Article  PubMed  Google Scholar 

DeJonckheere M, Vaughn LM (2019) Semistructured interviewing in primary care research: a balance of relationship and rigour. Fam Med Commun Health 7(2):e000057. https://doi.org/10.1136/fmch-2018-000057

Article  Google Scholar 

Jordan J, Clarke SO, Coates WC (2021) A practical guide for conducting qualitative research in medical education: part 1-how to interview. AEM Educ Train 5(3):e10646. https://doi.org/10.1002/aet2.10646

Article  PubMed  PubMed Central  Google Scholar 

Miles M, Huberman M, Saldaña J (2013) Qualitative data analysis: a method sourcebook, 3rd edn. Sage, Thousand Oaks, CA, USA

Google Scholar 

Creswell JW, Poth CN (2018) Qualitative inquiry and research design: choosing among five approaches, 4th edn. Thousand Oaks, Sage

Google Scholar 

Korstjens I, Moser A (2018) Series: practical guidance to qualitative research. Part 4: trustworthiness and publishing. Eur J Gen Pract 24:120–124. https://doi.org/10.1080/13814788.2017.1375092

Article  PubMed  Google Scholar 

Palacios-Ceña D, Güeita-Rodríguez J, Gil-Nagel A, Jimenez-Antona C, García-Bravo C, Velarde-García JF et al (2024) Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study. Dev Med Child Neurol 66(2):195–205. https://doi.org/10.1111/dmcn.15712

Article  PubMed  Google Scholar 

Spindler UP, Hotopp LC, Bach VA, Hornemann F, Syrbe S, Andreas A, Merkenschlager A et al (2017) Seizure disorders and developmental disorders: impact on life of affected families-a structured interview. Eur J Pediatr 176(8):1121–1129. https://doi.org/10.1007/s00431-017-2958-0

Article  PubMed  Google Scholar 

Hartley SL, Baker ET, Seltzer MM, Floyd F, Greenberg J, Orsmond G, Bolt D (2010) The relative risk and timing of divorce in families of children with an autism spectrum disorder. J Fam Psychol 24(4):449–457. https://doi.org/10.1037/a0019847

Article  PubMed  PubMed Central  Google Scholar 

McDonald A, Goodwin J, Roberts S, Fish L, Vaughan B, Cooper A, Cadwgan J (2019) “We”ve made the best of it. But we do not have a normal life’: families’ experiences of tuberous sclerosis complex and seizure management. J Intellect Disabil Res 63(8):947–956. https://doi.org/10.1111/jir.12609

Myring J, Beckett W, Jassi R, Roberts T, Sayers R, Scotcher D, McAllister M (2011) Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples–a qualitative study. J Genet Couns 20(4):404–417. https://doi.org/10.1007/s10897-011-9363-z

Article  PubMed  Google Scholar 

Schultz CL, Tchume-Johnson T, Jackson T, Enninful-Eghan H, Schapira MM, Smith-Whitley K (2020) Reproductive intentions in mothers of young children with sickle cell disease. Pediatr Blood Cancer 67(5):e28227. https://doi.org/10.1002/pbc.28227

Article  PubMed  Google Scholar 

Gee M, Piercy H, Machaczek K (2017) Family planning decisions for parents of children with a rare genetic condition: a scoping review. BMJ Sex Reprod Health 14:1–6. https://doi.org/10.1016/j.srhc.2017.08.001

Article  Google Scholar 

Bailey LD, Schwartz L, Dixon-Salazar T, Meskis MA, Galer BS, Gammaitoni AR, Schad C (2020) Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies. Epilepsy Behav 112:107377.