A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

Epilepsia

Volumn 57, Issue 5, 2016, Pages e87-e93

  Devaux, Jérôme ^a   Abidi, Affef ^a,b   Roubertie, Agathe ^c,d   Molinari, Florence ^b,e   Becq, Hélène ^b,e   Lacoste, Caroline ^a,b,f   Villard, Laurent ^a,b   Milh, Mathieu ^a,b,f   Aniksztejn, Laurent ^b,e  

^a AIX MARSEILLE UNIVERSITY   (France)

^b INSERM   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d Montpellier University Medical Center   (France)

^e Turing Center for Living Systems CENTURI Aix Marseille University   (France)

^f TIMONE HOSPITAL   (France)

Author keywords

Axon initial segment; Early onset epileptic encephalopathy; Gain of function; KCNQ2; Linopirdine; M current

Indexed keywords

LINOPIRDINE; PHENOBARBITAL; POTASSIUM CHANNEL KCNQ2; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RETIGABINE; TOPIRAMATE; VIGABATRIN; ANKYRIN; ANTICONVULSIVE AGENT; CARBAMIC ACID DERIVATIVE; INDOLE DERIVATIVE; PHENYLENEDIAMINE DERIVATIVE; POTASSIUM CHANNEL BLOCKING AGENT; PYRIDINE DERIVATIVE;

ACTIVATION TIME CONSTANT; ARTICLE; AXON; CASE REPORT; CELLULAR DISTRIBUTION; CLEFT PALATE; CLINICAL FEATURE; CURRENT DENSITY; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GAIN OF FUNCTION MUTATION; GENE MUTATION; HUMAN; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYRAMIDAL SIGN; SPASTICITY; ANIMAL; CHO CELL LINE; CRICETULUS; CYTOLOGY; DRUG EFFECTS; ELECTROSTIMULATION; GENETICS; HIPPOCAMPUS; INFANTILE SPASM; MALE; MEMBRANE POTENTIAL; METABOLISM; NERVE CELL; PATCH CLAMP TECHNIQUE; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ANKYRINS; ANTICONVULSANTS; CARBAMATES; CHO CELLS; CRICETULUS; ELECTRIC STIMULATION; FEMALE; HIPPOCAMPUS; HUMANS; INDOLES; KCNQ2 POTASSIUM CHANNEL; MALE; MEMBRANE POTENTIALS; NEURONS; PATCH-CLAMP TECHNIQUES; PHENYLENEDIAMINES; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNEL BLOCKERS; PYRIDINES; SPASMS, INFANTILE;

EID: 84963568101     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13366     Document Type: Article

References (15)

1. Maljevic S, Lerche H,. Potassium channel genes and benign familial neonatal epilepsy. Prog Brain Res 2014; 213: 17-53.
2. Jentsch TJ,. Neuronal KCNQ potassium channels: physiology and role in disease. Nat Rev Neurosci 2000; 1: 21-30.
3. Devaux JJ, Kleopa KA, Cooper EC, et al., KCNQ2 is a nodal K+ channel. J Neurosci 2004; 24: 1236-1244.
4. Shah MM, Migliore M, Valencia I, et al., Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons. Proc Natl Acad Sci USA 2008; 105: 7869-7874.
5. Battefeld A, Tran BT, Gavrilis J, et al., Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. J Neurosci 2014; 34: 3719-3732.
6. Orhan G, Bock M, Schepers D, et al., Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014; 75: 382-394.
7. Abidi A, Devaux J, Molinari F, et al., A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels. Neurobiol Dis 2015; 80: 80-92.
8. Miceli F, Soldovieri MV, Ambrosino P, et al., Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci 2015; 3: 3782-3793.
9. 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.
10. Weckhuysen S, Mandelstam S, Suls A, et al., KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012; 71: 15-25.
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. Kanaumi T, Takashima S, Iwasaki H, et al., Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 2008; 30: 362-369.
13. Khazipov R, Luhmann HJ,. Early patterns of electrical activity in the developing cerebral cortex of humans and rodents. Trends Neurosci 2006; 29: 414-418.
14. Minlebaev M, Colonnese M, Tsintsadze T, et al., Early γ oscillations synchronize developing thalamus and cortex. Science 2011; 334: 226-229.
15. Marguet SL, Le-Schulte VT, Merseburg A, et al., Treatment during a vulnerable developmental period rescues a genetic epilepsy. Nat Med 2015; 21: 1436-1444.