Abbasi AA, Blaesius K, Hu H, Latif Z, Picker‐Minh S, Khan MN, … Kaindl AM (2017) Identification of a novel homozygous TRAPPC9 gene mutation causing non‐syndromic intellectual disability, speech disorder, and secondary microcephaly. Am J Med Genet Part B: Neuropsychiatr Genet 174(8):839–845
Abbasi AA, Blasius K, Ahmed I, Hu H, Picker-Minh S, Khan MN, Hameed K, Gulnaz A, Latif Z, Rauf A, Kaindl AM (2018) Homozygous nonsense mutation in the ASPM gene causes MCPH in consanguineous Pakistani Families. Pak J Zool 50(5):1991–1994
Abdulkareem AA, Zaman Q, Khan H, Khan S, Rehman G, Tariq N, … Muthaffar OY (2023) Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families. Front Genet 14:1185065
Abid R, Nisar H, Chaudhary SU, Hamid M, Sahibzada KI, Firdous S, Mudassar M, Sadaf S (2024) Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis (ST3GAL5) and calcium voltage-gated channels (CACNA1H) - insights through molecular dynamic simulations. J Biomol Struct Dyn :1–12. https://doi.org/10.1080/07391102.2024.2314751
Accogli A, Addour-Boudrahem N, Srour M (2021) Diagnostic approach to cerebellar hypoplasia. Cerebellum. 20(4):631–658. https://doi.org/10.1007/s12311-020-01224-5
Ahmad B, Rehman AU, Malik S (2016) Consanguinity and inbreeding coefficient in tribal Pashtuns inhabiting the turbulent and war-affected territory of Bajaur Agency, North-West Pakistan. J Biosoc Sci 48(1):113–128
Ahmad I, Rehman AU, Malik S (2016) Determinants of consanguinity and inbreeding coefficient F in Dir lower district, north-west Pakistan: a multivariate approach. Iran J Public Health 45(4):537–539
PubMed PubMed Central Google Scholar
Ahmad R, Sayyad F, Naeem M, Houlden H (2025) Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1). Mol Biol Rep 52(1):7
Ahmed AN, Rawlins LE, Khan N, Jan Z, Ubeyratna N, Voutsina N, … Crosby AH (2024a) Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan. BMC Neurol 24(1):394
Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, … Mir A (2024b) Identification of four novel candidate genes for non-syndromic intellectual disability in Pakistani families. Biochem Genet 62(4):2571–2586
Akram R, Baig SM, Anwar H, Hussain G (2024) A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families. Pak J Med Sci 40(8):1765
Article PubMed PubMed Central Google Scholar
Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, … Dahl N (2016) Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. J Neurol Sci 371:105–111
Alkuraya FS (2010) Autozygome decoded. Genet Med 12(12):765–771
Asif M, Anayat M, Tariq F, Noureen T, Din GNU, Becker C, … Shaiq PA (2022) Whole-exome sequencing of Pakistani consanguineous families identified pathogenic variants in genes of intellectual disability. Genes 14(1):48
Asif M, Chiou C-C, Hussain MF, Hussain M, Sajid Z, Gulsher M, … Kloczkowski A (2023) Homozygous mutations in GDAP1 and MFN2 genes resulted in autosomal recessive forms of charcot–marie–tooth disease in consanguineous Pakistani families. DNA Cell Biol 42(11):697–708
Aslam Z, Lee E, Badshah M, Naeem M, Kang C (2017) Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family. Seizure 51:200–203
Aslam Z, Zubaida B, Khan R, Naeem M (2025) Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease. Acta Epileptologica 7:7
Azad, B., Efthymiou, S., Sultan, T., Scala, M., Alvi, J. R., Neuray, C., … Group, S. S (2020) Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. J Neurol Sci 414:116826
Azeem A, Ahmed AN, Khan N, Voutsina N, Ullah I, Ubeyratna N, … Rawlins LE (2024) Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families. BMC Neurol 24(1):354
Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS (2023) Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models. J Hum Genet 68(7):469–475
Article CAS PubMed Google Scholar
Bennett MJ, Rakheja D (2013) The neuronal ceroid-lipofuscinoses. Dev Disabil Res Rev 17(3):254–259
Bentley SR, Khan S, Öchsner M, Premarathne S, Aslam Z, Fowdar JY, … Wood SA (2020) Evidence of a recessively inherited CCN3 mutation as a rare cause of early-onset parkinsonism. Front Neurol 11:331
Bibi F, Efthymiou S, Bourinaris T, Tariq A, Zafar F, Rana N, … Saeed S (2020) Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. J Neurol Sci 411:116669
Bibi F, Haider N, Din SU, Shah M, Krishin J, Qayyum N, … Khaliq T (2020) Sequence variants in three genes underlying leukodystrophy in Pakistani families. Int J Dev Neurosci 80(5):380–388
Bibi F, Ullah A, Bourinaris T, Efthymiou S, Kriouile, Y, Sultan T, … Raja GK (2021) Tay-Sachs disease: two novel rare HEXA mutations from Pakistan and Morocco. Klin Pädiatrie 233(05):226–230
Biffi A, Aubourg P, Cartier N (2011) Gene therapy for leukodystrophies. Hum Mol Genet 20(R1):R42–R53
Article CAS PubMed Google Scholar
Billakota S, Devinsky O, Kim K-W (2020) Why we urgently need improved epilepsy therapies for adult patients. Neuropharmacology 170:107855
Article CAS PubMed Google Scholar
Braun DA, Hildebrandt F (2017) Ciliopathies. Cold Spring Harb Perspect Biol 9(3):a028191
Article PubMed PubMed Central Google Scholar
Carr IM, Bhaskar S, O’Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, … Alkuraya FS (2013) Autozygosity mapping with exome sequence data. Hum Mutat 34(1):50–56
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, … Masnada S (2024) Genetic epilepsies and developmental epileptic encephalopathies with early onset: a multicenter study. Int J Mol Sci 25(2):1248
Chang Y-T, Hong S-Y, Lin W-D, Lin C-H, Lin S-S, Tsai F-J, Chou I-C (2023) Genetic testing in children with developmental and epileptic encephalopathies: a review of advances in epilepsy genomics. Children 10(3):556
Article PubMed PubMed Central Google Scholar
Chen Z, Brodie MJ, Ding D, Kwan P (2023) Editorial: Epidemiology of epilepsy and seizures. Front Epidemiol 3:1273163
Article PubMed PubMed Central Google Scholar
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, … Charles P (2018) Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of 2 clinical units and 216 patients. Clin Genet 93(3):567–576
Clayton JS, Johari M, Taylor RL, Dofash L, Allan G, Monahan G, … Laing NG (2024) An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene. Hum Mutat 2024(1):6496088
Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, … Kauffman MA (2018) Whole exome sequencing in neurogenetic odysseys: an effective, cost-and time-saving diagnostic approach. PloS One 13(2):e0191228
Corsello G, Giuffrè M (2012) Congenital malformations. J Matern Fetal Neonatal Med 25(sup1):25–29
Deciphering Developmental Disorders Study (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature 519(7542):223–228. https://doi.org/10.1038/nature14135
Di Resta C, Pipitone GB, Carrera P, Ferrari M (2021) Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. Neural Regen Res 16(3):475–481
Díaz-Insa S, Santos-Lasaosa S, Driessen MT, Cohen JM, Lee L, Goadsby PJ (2024) Burden of episodic and chronic migraine in patients who had failed multiple preventive treatments from France, Spain, and the United Kingdom. Acta Neurol Scand 2024(1):4714514
Fatima A, Abdullah U, Farooq M, Mang Y, Mehrjouy MM, Asif M, … Baig SM (2021) Rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families. Genes 12(12):1899
Feigin VL, Nichols E, Alam T, Bannick MS, Beghi E, Blake N, … Ellenbogen RG (2019) Global, regional, and national burden of neurological disorders, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol 18(5):459–480
Fellner A, Goldberg Y, Basel-Salmon L (2023) Ordering genetic testing by neurologists: points to consider. J Neurol 270(8):3714–3722
Ghafoor S, Rafiq MA, Abbas Shah ST, Ansar M, Paton T, Ajmal M, Agha Z, Qamar R, Azam M (2024) KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC. Int J Neurosci 134(6):665–675
Gilissen C, Hehir-Kwa JY, Thung DT, Van De Vorst M, Van Bon BW, Willemsen MH, … Schenck A (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511(7509):344–347
Goh G, Choi M (2012) Application of whole exome sequencing to identify disease-causing variants in inherited human diseases. Genom Inf 10(4):214
Guo Y, Long J, He J, Li C-I, Cai Q, Shu X-O, … Li C (2012) Exome sequencing generates high quality data in non-target regions. BMC Genomics 13:1–10
Hall D, Stong N, Lippa N, Pitman MJ, Pullman SL, Levy OA (2018) Spasmodic dysphonia in hereditary spastic paraplegia type 7. Mov Disord Clin Pract 5(2):221
Article PubMed PubMed Central Google Scholar
Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, … Houlden H (2020) Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. BMC Med Genet 21:1–8
Ilyas M, Holzwarth D, Ishaq R, Ali Y, Habiba U, Raja AM, … Ullah A (2024) Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy. Seizure 116:74–80
Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, … Abdullah U (2024) Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. Epilepsy Res 201:107283
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, … Baig SM (2021) Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet Med 23(11):2138–2149
Jain V, Irving R, Williams A (2023) Genomic testing in neurology. Pract Neurol 23(5):420–429
Jankovic J, Hallett M, Fahn S (2011) Principles and practice of movement disorders E-book, 3rd edn. Elsevier
Kanner AM (2016) Psychiatric comorbidities in epilepsy: should they be considered in the classification of epileptic disorders? Epilepsy Behav 64:306–308
Kanungo S, Morton J, Neelakantan M, Ching K, Saeedian J, Goldstein A (2018) Mitochondrial disorders. Ann Transl Med 6(24):475
Article CAS PubMed PubMed Central Google Scholar
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, … Zguro K (2022) SPTBN5, Encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures. Front Mol Neurosci 15:877258
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, … Ahmad I (2022) NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes. Mol Genet Genomics 297(6):1601–1613
Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, … Vincent JB (2024) Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder. Sci Rep 14(1):9230
Khan MI, Latif M, Saif M, Ahmad H, Khan AU, Naseer MI, … Jelani M (2021) Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family. J Gene Med 23(1):e3279
Khan NM, Masoud MS, Baig SM, Qasim M, Chang J (2022) Identification of pathogenic mutations in primary microcephaly-(MCPH-) related three genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. Biomed Res Int 2022(1):3769948
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