EXPERIENCE WITH THE KETOGENIC DIET IN A BOY WITH CLCN4 RELATED NEURODEVELOPMENTAL DISORDER
Sager G, Yukselmi̇s U, Güzel O, Turkyilmaz A, Akcay M
*Corresponding Author: Gunes SAGER, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Kartal, Istanbul, Turkey. ORCID-ID: 0000-0002-9876-2454, Tel: +905055983104, E-mail: sgunessenturk@gmail.com
page: 77

REFERENCE

1. He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, et al. The molecular and phenotypic spectrum of CLCN4-related epilepsy. Epilepsia. 2021;62(6):1401-1415. 2. Xu X, Lu F, Zhang L, Li H, Du S, Tang J. Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report. BMCPediatr. 2021;3;21(1):384. 3. Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neu- rodegeneration. EMBO J.2020;4;39(9):e103358. 4. Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH., et al. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Mol Psychiatry. 2023 Feb;28(2):668-697. 5. Bough KJ, Rho JM. Anticonvulsant mechanisms of the ketogenic diet. Epilepsia. 2007 Jan;48(1):43-58. 6. Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG., et al. Charlie Founda- tion; Matthew’s Friends; Practice Committee of the Child Neurology Society. Optimal clinical manage- ment of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018 May 21;3(2):175-192. 7. Zhou P, He N, Zhang JW, Lin ZJ, Wang J, Yan LM, et al. Novel mutations and phenotypes of epilepsy- associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. 8. Archila R, Papazian O. Síndrome de Lennox-Gastaut [Lennox-Gastaut syndrome].Rev Neurol. 1999;16- 31;29(4):346-9. Spanish. 9. Accardi A, Miller C. Secondary active transport medi- ated by a prokaryotic homologue of ClC Cl- channels. Nature. 2004:26;427(6977):803-7. 10. Guzman RE, Alekov AK, Filippov M, Hegermann J, Fahlke C. Involvement of ClC-3chloride/proton exchangers in controlling glutamatergic synaptic strength incultured hippocampal neurons. Front Cell Neurosci. 2014;23;8:143. 11. Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013;54(7):1270-81. 12. Fernández-Marmiesse A, Roca I, Díaz-Flores F, Can- tarín V, Pérez-Poyato MS,Fontalba A, Laranjeira F, et al. Rare Variants in 48 Genes Account for42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246Pediatric Patients. Front Neuro- sci. 2019:8;13:1135. 13. Tassinari CA, Dravet C, Roger J, Cano JP, Gastaut H. Tonic status epilepticus precipitated by intravenous benzodiazepine in five patients with Lennox-Gastaut syndrome. Epilepsia. 1972 Jul;13(3):421-35. 14. Sankar R. GABA(A) receptor physiology and its relationship to the mechanism of action of the 1,5-benzodiazepine clobazam. CNS Drugs. 2012;26(3):229-44. 15. Macdonald RL, Kelly KM. Antiepileptic drug mecha- nisms of action. Epilepsia.1995;36l 2:S2-12. 16. Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, et al. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2018 ;23(2):222-230.



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