Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations

Neurology

Volumn 72, Issue 13, 2009, Pages 1178-1183

  Vahedi, K ^a,b   Depienne, C ^c,d,e   Le Fort, D ^f   Riant, F ^a,b,g   Chaine, P ^a   Trouillard, O ^c,d   Gaudric, A ^a,b   Morris, M A ^h   LeGuern, E ^c,d,e   Tournier Lasserve, E ^a,b,g   Bousser, M G ^a,h  

^a HÔPITAL LARIBOISIÈRE   (France)

^b Centre de Reference pour les Maladies Vasculaires Rares du Systeme Nerveux Central et de la Retine   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HÔpital de la Salpêtrière   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f Clinique et Policlinique de Neurologie   (Switzerland)

^g INSERM   (France)

^h UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL; NERVE PROTEIN; SODIUM CHANNEL; SODIUM CHANNEL, VOLTAGE GATED, TYPE I, ALPHA PROTEIN; SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, ALPHA PROTEIN;

ARTICLE; BLINDNESS; CAUCASIAN; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRIC POTENTIAL; ELICITED REPETITIVE DAILY BLINDNESS; FAMILIAL HEMIPLEGIC MIGRAINE; FEMALE; GENE; GENE FUNCTION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE EXCITABILITY; PHENOTYPE; PRIORITY JOURNAL; RETINA; SCN1A GENE; SEGREGATION ANALYSIS; SEIZURE; ADOLESCENT; AMINO ACID SEQUENCE; CASE REPORT; CIRCADIAN RHYTHM; GENETICS; MIGRAINE WITH AURA; MOLECULAR GENETICS; PEDIGREE; RECURRENT DISEASE; REVIEW; SEQUENCE ALIGNMENT; TRANSITIONAL BLINDNESS;

ADOLESCENT; AMAUROSIS FUGAX; AMINO ACID SEQUENCE; CIRCADIAN RHYTHM; FEMALE; HUMANS; MALE; MIGRAINE WITH AURA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RECURRENCE; SEQUENCE ALIGNMENT; SODIUM CHANNELS;

EID: 65249130529     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000345393.53132.8c     Document Type: Article

References (24)

1. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+channel gene CACNL1A4. Cell 1996;87:543-552.
2. Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001;345: 17-24.
3. Thomsen LL, Kirchmann M, Bjornsson A, et al. The genetic spectrum of a population-based sample of familial hemiplegic migraine. Brain 2007;130:346-356.
4. De Fusco M, Marconi R, Silvestri L, et al. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003;33:192-196.
5. Riant F, DeFusco M, Aridon P, et al. ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat 2005;26:281.
6. de Vries B, Freilinger T, Vanmolkot KR, et al. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology 2007;69:2170-2176.
7. Dichgans M, Freilinger T, Eckstein G, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005;366:371-377.
8. Vanmolkot KR, Babini E, de Vries B, et al. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957 (2007) Online. Hum Mutat 2007;28:522.
9. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-345.
10. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68: 1327-1332.
11. Mulley JC, Scheffer IE, Petrou S, et al. SCN1A mutations and epilepsy. Hum Mutat 2005;25:535-542.
12. Kors EE, Terwindt GM, Vermeulen FL, et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol 2001;49:753-760.
13. Vahedi K, Denier C, Ducros A, et al. CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology 2000;55:1040-1042.
14. Le Fort D, Safran AB, Picard F, et al. Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. Neurology 2004;63:348-350.
15. Depienne C, Trouillard O, Saint-Martin C, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet Epub 2008 Nov 13.
16. Hill DL, Daroff RB, Ducros A, et al. Most cases labeled as "retinal migraine" are not migraine. J Neuro-ophthalmol 2007;27:3-8.
17. Headache Classification Subcommittee of the International Headache Society. The International Classification of Headache Disorders: 2nd edition. Cephalalgia 2004;24 suppl 1:9-160.
18. Dahlem YA, Hanke W. Intrinsic optical signal of retinal spreading depression: second phase depends on energy metabolism and nitric oxide. Brain Res 2005;1049:15-24.
19. Weimer MS, Hanke W. Correlation between the durations of refractory period and intrinsic optical signal of retinal spreading depression during temperature variations. Exp Brain Res 2005;161:201-208.
20. Whitaker WR, Clare JJ, Powell AJ, et al. Distribution of voltage-gated sodium channel alpha-subunit and betasubunit mRNAs in human hippocampal formation, cortex, and cerebellum. J Comp Neurol 2000;422:123-139.
21. Gourfinkel-An I, Baulac S, Nabbout R, et al. Monogenic idiopathic epilepsies. Lancet Neurol 2004;3:209-218.
22. Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-852.
23. Mojumder DK, Frishman LJ, Otteson DC, Sherry DM. Voltage-gated sodium channel alpha-subunits Na(v) 1.1, Na(v) 1.2, and Na(v) 1.6 in the distal mammalian retina. Mol Vis 2007;13:2163-2182.
24. Zenisek D, Henry D, Studholme K, et al. Voltagedependent sodium channels are expressed in nonspiking retinal bipolar neurons. J Neurosci 2001;21: 4543-4550.