Uneingeschränkter Zugang

Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder


Zitieren

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. HeH GuzmanRE CaoD Sierra-MarquezJ YinF FahlkeC The molecular and phenotypic spectrum of CLCN4-related epilepsy Epilepsia 2021 62 6 1401 1415 Search in Google Scholar

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. XuX LuF ZhangL LiH DuS TangJ Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report BMCPediatr 2021 3 21 1 384 Search in Google Scholar

Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO J. 2020;4;39(9):e103358. WeinertS GimberN DeuschelD StuhlmannT PuchkovD FarsiZ Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration EMBO J 2020 4 39 9 e103358 Search in Google Scholar

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. PalmerEE PuschM PicolloA ForwoodC NguyenMH Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Mol Psychiatry 2023 Feb 28 2 668 697 Search in Google Scholar

Bough KJ, Rho JM. Anticonvulsant mechanisms of the ketogenic diet. Epilepsia. 2007 Jan;48(1):43–58. BoughKJ RhoJM Anticonvulsant mechanisms of the ketogenic diet Epilepsia 2007 Jan 48 1 43 58 Search in Google Scholar

Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG., et al. Charlie Foundation; Matthew’s Friends; Practice Committee of the Child Neurology Society. Optimal clinical management 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. KossoffEH Zupec-KaniaBA AuvinS Ballaban-GilKR Christina BergqvistAG Charlie Foundation; Matthew’s Friends; Practice Committee of the Child Neurology Society. Optimal clinical management 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 Search in Google Scholar

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. ZhouP HeN ZhangJW LinZJ WangJ YanLM Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies Genes Brain Behav 2018 17 8 e12456 Search in Google Scholar

Archila R, Papazian O. Síndrome de Lennox-Gastaut [Lennox-Gastaut syndrome]. Rev Neurol. 1999;16–31;29(4):346–9. Spanish. ArchilaR PapazianO Síndrome de Lennox-Gastaut [Lennox-Gastaut syndrome] Rev Neurol 1999 16–31 29 4 346 9 Spanish. Search in Google Scholar

Accardi A, Miller C. Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels. Nature. 2004:26;427(6977):803–7. AccardiA MillerC Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels Nature 2004 26 427 6977 803 7 Search in Google Scholar

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. GuzmanRE AlekovAK FilippovM HegermannJ FahlkeC Involvement of ClC-3chloride/proton exchangers in controlling glutamatergic synaptic strength incultured hippocampal neurons Front Cell Neurosci 2014 23 8 143 Search in Google Scholar

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. VeeramahKR JohnstoneL KarafetTM WolfD SprisslerR SalogiannisJ Exome sequencing reveals new causal mutations in children with epileptic encephalopathies Epilepsia 2013 54 7 1270 81 Search in Google Scholar

Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, et al. Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelop-mental Delay in 246 Pediatric Patients. Front Neurosci. 2019:8;13:1135. Fernández-MarmiesseA RocaI Díaz-FloresF CantarínV Pérez-PoyatoMS FontalbaA LaranjeiraF Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelop-mental Delay in 246 Pediatric Patients Front Neurosci 2019 8 13 1135 Search in Google Scholar

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. TassinariCA DravetC RogerJ CanoJP GastautH Tonic status epilepticus precipitated by intravenous benzodiazepine in five patients with Lennox-Gastaut syndrome Epilepsia 1972 Jul 13 3 421 35 Search in Google Scholar

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. SankarR 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 Search in Google Scholar

Macdonald RL, Kelly KM. Antiepileptic drug mechanisms of action. Epilepsia. 1995;36l 2:S2–12. MacdonaldRL KellyKM Antiepileptic drug mechanisms of action Epilepsia 1995 36l 2 S2 12 Search in Google Scholar

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. PalmerEE StuhlmannT WeinertS HaanE Van EschH HolvoetM 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 Search in Google Scholar

eISSN:
1311-0160
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
2 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Vorklinische Medizin, Grundlagenmedizin, andere