Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms
Stéphane Auvin
Service de Neurologie Pédiatrique et des Maladies Métaboliques, CHU Robert Debré– APHP, Paris, France
Service de Neurologie Pédiatrique, CHRU de Lille, France
Search for more papers by this authorMuriel Holder-Espinasse
Service de Génétique Clinique, CHRU de Lille, France
Search for more papers by this authorMarie-Dominique Lamblin
Service de Neurophysiologie Clinique, CHRU de Lille, France
Search for more papers by this authorJoris Andrieux
Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France
Search for more papers by this authorStéphane Auvin
Service de Neurologie Pédiatrique et des Maladies Métaboliques, CHU Robert Debré– APHP, Paris, France
Service de Neurologie Pédiatrique, CHRU de Lille, France
Search for more papers by this authorMuriel Holder-Espinasse
Service de Génétique Clinique, CHRU de Lille, France
Search for more papers by this authorMarie-Dominique Lamblin
Service de Neurophysiologie Clinique, CHRU de Lille, France
Search for more papers by this authorJoris Andrieux
Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France
Search for more papers by this author
Supporting Information
Figure S1. Additional material: EEG recording at 8-month-old associated with right and left deltoid EMG electrods (two last lines). Ictal EEG: cluster of spasm (Horizontal bar: 1 second/ vertical bar: 20 μVolt.) and hypsarrhyyhmia.
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References
- Beauvais K, Cave-Riant F, De BC, Tardieu M, Tournier-Lasserve E, Furby A. (2004) New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus. Eur Neurol 52: 58–61.
- Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ. (2001) Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56: 1245–1246.
- Glasscock E, Qian J, Yoo JW, Noebels JL. (2007) Masking epilepsy by combining two epilepsy genes. Nat Neurosci 10: 1554–1558.
- Guerin AA, Feigenbaum A, Donner EJ, Yoon G. (2008) Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol 39: 363–364.
- Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, Hanna MG. (2001) Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358: 801–807.
- Kors EE, Melberg A, Vanmolkot KR, Kumlien E, Haan J, Raininko R, Flink R, Ginjaar HB, Frants RR, Ferrari MD, Van Den Maagdenberg AM. (2004) Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACN1A mutation. Neurology 63: 1136–1137.
- Ophoff RA, Terwindt GM, Vergouwe MN, Van ER, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, Van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 + channel gene CACN1A4. Cell 87: 543–552.
- Vahedi K, Denier C, Ducros A, Bousson V, Levy C, Chabriat H, Haguenau M, Tournier-Lasserve E, Bousser MG. (2000) CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology 55: 1040–1042.
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