Clinical/scientific notes

Neurology

Volumn 82, Issue 4, 2014, Pages 368-370

  Numis, Adam L ^a   Angriman, Marco ^b   Sullivan, Joseph E ^a   Lewis, Ann J ^c   Striano, Pasquale ^d   Nabbout, Rima ^e   Cilio, Maria R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CENTRAL HOSPITAL OF BOLZANO   (Italy)

^c KAISER PERMANENTE   (United States)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; POTASSIUM CHANNEL KCNQ2; ANTICONVULSIVE AGENT;

BRAIN DISEASE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILY HISTORY; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRACTABLE EPILEPSY; KCNQ2 ENCEPHALOPATHY; MEDICAL RECORD REVIEW; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEWBORN PERIOD; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN THERAPY; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY FAILURE; SEIZURE; TREATMENT RESPONSE; ARTICLE; BENIGN CHILDHOOD EPILEPSY; FEMALE; GENETICS; GESTATIONAL AGE; INFANT; MALE; MUTATION; PSYCHOMOTOR DISORDER;

ANTICONVULSANTS; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; FEMALE; GESTATIONAL AGE; HUMANS; INFANT; KCNQ2 POTASSIUM CHANNEL; MAGNETIC RESONANCE IMAGING; MALE; MOTOR SKILLS DISORDERS; MUTATION; PHENOTYPE;

EID: 84895767176     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000060     Document Type: Note

References (7)

1. Nabbout R, Dulac O. Epilepsy genetics of early-onset epilepsy with encephalopathy. Nat Rev Neurol 2011;8:129-130.
2. Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: Expansion of the functional and mutation spectrum. Brain 2003;126:2726-2737.
3. Kato M, Yamagata T, Kubota M, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013;54:1282-1287.
4. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012;71:15-25.
5. Miles DK, Holmes GL. Benign neonatal seizures. J Clin Neurophysiol1990;7:369-379.
6. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. In: Roger J, Bureau M, Dravet C, et al, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence. Eastleigh, UK John Libbey & Co.; 2002: 33-44.
7. Pan Z, Kao T, Horvath Z, et al. A common ankyrin-Gbased mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 2006;26: 2599-2613.