Shao LR, Habela CW, Stafstrom CE (2019) Pediatric epilepsy mechanisms: expanding the paradigm of excitation/inhibition imbalance. Child (Basel) 6(2)

Singh G, Sander JW (2020) The global burden of epilepsy report: implications for low- and middle-income countries. Epilepsy Behav 105:106949

Article  PubMed  Google Scholar 

Division (2023) 10.6.2023] U.o.C.s.B.S. the University of Chicago Medicine. Available from: https://www.uchicagomedicine.org/about-us

Wang J et al (2017) Epilepsy-associated genes. Seizure 44:11–20

Article  CAS  PubMed  Google Scholar 

Ullah S et al (2018) The epidemiological characteristics of epilepsy in the Province of Khyber Pakhtunkhwa, Pakistan. Front Neurol 9:845

Article  PubMed  PubMed Central  Google Scholar 

Tehmina SA et al (2020) Prevalence, treatment approaches and role of medicinal plants towards epilepsy in Chitral, Pakistan. Hamdard Medicus 63(2):13

Google Scholar 

Sandweiss AJ, Brandt VL, Zoghbi HY (2020) Advances in Understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. Lancet Neurol 19(8):689–698

Article  CAS  PubMed  Google Scholar 

Collins BE, Neul JL (2022) Rett syndrome and MECP2 duplication syndrome: disorders of MeCP2 dosage. Neuropsychiatr Dis Treat 18:2813–2835

Article  PubMed  PubMed Central  Google Scholar 

Chahil G, Bollu PC (2023) Rett Syndrome, in StatPearls. StatPearls Publishing Copyright © 2023, StatPearls Publishing LLC.: Treasure Island (FL)

Mahdi SS et al (2021) Oral manifestations of Rett Syndrome-A systematic review. Int J Environ Res Public Health 18(3)

Pascual-Alonso A et al (2021) MECP2-Related disorders in males. Int J Mol Sci 22(17)

Sheen V, Valencia IM, Torres AR (2013) Atypical features in MECP2 P152R-associated Rett syndrome. Pediatr Neurol 49(2):124–126

Article  PubMed  Google Scholar 

Casas-Delucchi CS et al (2012) Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization. Nucleic Acids Res 40(22):e176

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kucukkal TG et al (2015) Impact of Rett syndrome mutations on MeCP2 MBD stability. Biochemistry 54(41):6357–6368

Article  CAS  PubMed  Google Scholar 

Rajni K et al (2020) Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study. J Translational Genet Genomics 4(2):91–103

Google Scholar 

Brunklaus A, Lal D (2020) Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application. Dev Med Child Neurol 62(7):784–792

Article  PubMed  Google Scholar 

Turner TJ et al (2021) Recent advances in gene therapy for neurodevelopmental disorders with epilepsy. J Neurochem 157(2):229–262

Article  CAS  PubMed  Google Scholar 

Harkin LA et al (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130(Pt 3):843–852

Article  PubMed  Google Scholar 

Depienne C et al (2009) Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 46(3):183–191

Article  CAS  PubMed  Google Scholar 

Burghardt K et al (2021) STX1B-related epilepsy in a 24-month-old female infant. Epilepsy Behav Rep 15:100391

Article  PubMed  Google Scholar 

Wolking S et al (2019) Clinical spectrum of STX1B-related epileptic disorders. Neurology 92(11):e1238–e1249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schubert J et al (2014) Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet 46(12):1327–1332

Article  CAS  PubMed  Google Scholar 

Djémié T et al (2016) Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med 4(4):457–464

Article  PubMed  PubMed Central  Google Scholar 

Gaily E et al (2013) Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. Epilepsia 54(9):1577–1585

Article  CAS  PubMed  Google Scholar 

Marques da Silva LF et al (2020) Dravet syndrome and SCN1A gene mutations: a review. J Neurol Stroke 10:61–65

Article  Google Scholar 

Al Mufargi Y, Qureshi A, Al Asmi A (2020) Lafora disease: report of a rare entity. Cureus 12(1):e6793

PubMed  PubMed Central  Google Scholar 

medlineplus. Lafora progressive myoclonus epilepsy (2023) 8-7-2023; Available from: https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy/#references

Minassian BA et al (2000) Mutation spectrum and predicted function of Laforin in Lafora’s progressive myoclonus epilepsy. Neurology 55(3):341–346

Article  CAS  PubMed  Google Scholar 

Wang J et al (2002) A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. J Biol Chem 277(4):2377–2380

Article  CAS  PubMed  Google Scholar 

Ganesh S et al (2002) Genotype-phenotype correlations for EPM2A mutations in Lafora’s progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet 11(11):1263–1271

Article  CAS  PubMed  Google Scholar 

Fernández-Sánchez ME et al (2003) Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Hum Mol Genet 12(23):3161–3171

Article  PubMed  Google Scholar