KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

Neurology: Genetics

Volumn 2, Issue 5, 2016, Pages

  Millichap, John J ^a   Park, Kristen L ^b   Tsuchida, Tammy ^c   Ben Zeev, Bruria ^d   Carmant, Lionel ^e   Flamini, Robert ^f   Joshi, Nishtha ^g   Levisohn, Paul M ^b   Marsh, Eric ^h   Nangia, Srishti ^a   Narayanan, Vinodh ⁱ   Ortiz Gonzalez, Xilma R ^h   Patterson, Marc C ^j   Pearl, Phillip L ^k   Porter, Brenda ^l   Ramsey, Keri ⁱ   McGinnis, Emily L ^h   Taglialatela, Maurizio ^m   Tracy, Molly ^n,o   Tran, Baouyen ^g   Venkatesan, Charu ^p   Weckhuysen, Sarah ^q,r   Cooper, Edward C ^g   more..

^a NORTHWESTERN UNIVERSITY   (United States)

^b Nutrition Obesity Research Center at the University of Colorado   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d TEL AVIV UNIVERSITY   (Israel)

^e UNIVERSITY OF MONTREAL   (Canada)

^f PANDA Neurology   (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^j MAYO CLINIC   (United States)

^k BOSTON CHILDREN S HOSPITAL   (United States)

^l STANFORD UNIVERSITY   (United States)

^m UNIVERSITY OF MOLISE   (Italy)

ⁿ BROWN UNIVERSITY   (United States)

^o Department of Pediatrics   (United States)

^p CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^q DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^r SORBONNE UNIVERSITÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL KCNQ2; RETIGABINE;

ADULT; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DRUG EFFECT; FEMALE; GENETIC ASSOCIATION; GENETIC VARIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; ONSET AGE; PROGNOSIS; RETROSPECTIVE STUDY; SEIZURE;

EID: 85045788498     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000096     Document Type: Article

References (39)

1. Borgatti R, Zucca C, Cavallini A., et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 2004; 63:57-65.
2. Dedek K, Fusco L, Teloy N., Steinlein OK. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 2003; 54:21-27.
3. Schmitt B, Wohlrab G, Sander T., Steinlein OK, Hajnal BL. Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res 2005; 65:161-168.
4. Steinlein OK, Conrad C, Weidner B. Benign familial neonatal convulsions: always benign?. Epilepsy Res 2007; 73: 245-249.
5. Weckhuysen S, Mandelstam S, Suls A., et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012; 71:15-25.
6. Allen NM, Mannion M, Conroy J., et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia 2014; 55:e99-e105.
7. Kato M, Yamagata T, Kubota M., et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013; 54:1282-1287.
8. Milh M, Boutry-Kryza N, Sutera-Sardo J, et al. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J Rare Dis 2013; 8:80.
9. Numis AL, Angriman M, Sullivan J.E., et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology 2014; 82:368-370.
10. Saitsu H, Kato M, Koide A., et al. Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 2012; 72:298-300.
11. Weckhuysen S, Ivanovic V, Hendrickx R., et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013; 81:1697-1703.
12. Pisano T, Numis AL, Heavin S.B., et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia 2015; 56: 685-691.
13. Millichap JJ, Cooper EC KCNQ2 potassium channel epileptic encephalopathy syndrome: divorce of an electro-mechanical couple? Epilepsy Curr 2012; 12:150-152.
14. Miceli F, Soldovieri MV, Ambrosino P, et al Genotypephenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci USA 2013; 110:4386-4391.
15. Orhan G, Bock M, Schepers D., et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2013; 75:382-394.
16. Miceli F, Soldovieri MV, Joshi N, Weckhuysen S., Cooper E, Taglialatela M. KCNQ2-related disorders. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews [serial online]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK32534/. Accessed June 2, 2016.
17. Harris PA, Taylor R, Thielke R., Payne J, Gonzalez N, Conde JG Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 2009; 42:377-381.
18. Brickel N, Gandhi P, VanLandingham K., Hammond J, DeRossett S. The urinary safety profile and secondary renal effects of retigabine (ezogabine): a first-in-class antiepileptic drug that targets KCNQ (K(v)7) potassium channels. Epilepsia 2012; 53:606-612.
19. Brodie MJ, Lerche H, Gil-Nagel A, et al. Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy. Neurology 2010; 75:1817-1824.
20. FDA Drug Safety Communication: anti-seizure drug Potiga (ezogabine) linked to retinal abnormalities and blue skin discoloration (4-26-2013) [online]. Available at: http://www.fda.gov/Drugs/DrugSafety/ucm349538.htm. Accessed December 15, 2014.
21. FDA Drug Safety Communication: anti-seizure drug Potiga (ezogabine) linked to retinal abnormalities and blue skin discoloration (10-31-2013) [online]. Available at: http://www.fda.gov/Drugs/DrugSafety/ucm372774.htm. Accessed December 15, 2014.
22. Garin Shkolnik T., Feuerman H, Didkovsky E., et al. Bluegray mucocutaneous discoloration: a new adverse effect of ezogabine. JAMA Dermatol 2014; 150:984-989.
23. Tompson DJ, Crean CS, Reeve R, Berry NS Efficacy and tolerability exposure-response relationship of retigabine (ezogabine) immediate-release tablets in patients with partial-onset seizures. Clin Ther 2013; 35:1174-1185.e4.
24. Hunter J, Maljevic S, Shankar A., et al. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. Neurobiol Dis 2006; 24: 194-201.
25. Ishii A, Fukuma G, Uehara A., et al. A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. Brain Dev 2009; 31:27-33.
26. Saadeldin IY, Milhem RM, Al-Gazali L, Ali BR. Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. Pediatr Neurol 2013; 48:63-66.
27. Samanta D, Ramakrishnaiah R, Willis E., Frye RE. Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. Acta Neurol Belg 2015; 115:475-478.
28. Peters HC, Hu H, Pongs O., Storm JF, Isbrandt D. Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. Nat Neurosci 2005; 8:51-60.
29. Soldovieri MV, Miceli F, Taglialatela M. Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. J Physiol 2011; 26:365-376.
30. Milh M, Lacoste C, Cacciagli P., et al. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. Am J Med Genet A 2015; 167A:2314-2318.
31. Ronen GM, Rosales TO, Connolly M, Anderson V.E., Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993; 43:1355-1360.
32. Miceli F, Soldovieri MV, Ambrosino P, et al Earlyonset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci 2015; 35: 3782-3793.
33. Veerapandiyan A, Singh P, Mikati MA Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. Epileptic Disord 2012; 14:99-103.
34. Amato G, Roeloffs R, Rigdon G.C., et al. N-Pyridyl and Pyrimidine Benzamides as KCNQ2/Q3 potassium channel openers for the treatment of epilepsy. ACS Med Chem Lett 2011; 2:481-484.
35. 1 channel opener for the treatment of epilepsy. Epilepsia 2012; 53: 412-424.
36. Qi J, Zhang F, Mi Y., et al. Design, synthesis and biological activity of pyrazolo[1,5-a]pyrimidin-7(4H)-ones as novel Kv7/KCNQ potassium channel activators. Eur J Med Chem 2011; 46:934-943.
37. Xiong Q, Gao Z, Wang W., Li M. Activation of Kv7 (KCNQ) voltage-gated potassium channels by synthetic compounds. Trends Pharmacol Sci 2008; 29:99-107.
38. Kalappa BI, Soh H, Duignan K.M., et al. Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitus. J Neurosci 2015; 35:8829-8842.
39. Kumar M, Reed N, Liu R., Aizenman E, Wipf P, Tzounopoulos T. Synthesis and evaluation of potent KCNQ2/3-specific channel activators. Mol Pharmacol 2016; 89:667-677.