I Gourfinkel-An
Overview
Explore the profile of I Gourfinkel-An including associated specialties, affiliations and a list of published articles.
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16
Citations
523
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Recent Articles
1.
Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, et al.
Rev Neurol (Paris)
. 2017 Jul;
174(1-2):56-65.
PMID: 28688606
Objectives: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the...
2.
Gourfinkel-An I, Baulac S, Brice A, Leguern E, Baulac M
Dialogues Clin Neurosci
. 2011 Oct;
3(1):47-57.
PMID: 22034131
Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery...
3.
Amiet C, Gourfinkel-An I, Consoli A, Perisse D, Cohen D
Arch Pediatr
. 2010 Jul;
17(6):650-1.
PMID: 20654825
No abstract available.
4.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al.
J Med Genet
. 2008 Oct;
46(3):183-91.
PMID: 18930999
Introduction: Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or SMEI). Objective: To characterise in...
5.
Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray J, Navarro V
J Inherit Metab Dis
. 2007 Oct;
30(6):846-54.
PMID: 17957491
Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some...
6.
Gourfinkel-An I, Duyckaerts C, Camuzat A, Meyrignac C, Sonderegger P, Baulac M, et al.
Neurology
. 2007 Jul;
69(1):79-83.
PMID: 17606885
Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation...
7.
Cherin P, Sedel F, Mignot C, Schupbach M, Gourfinkel-An I, Verny M, et al.
Rev Neurol (Paris)
. 2006 Nov;
162(11):1076-83.
PMID: 17086144
Introduction: Gaucher's disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. The resulting accumulation of glucocerebrosides in lysosomes of macrophages leads to hepatosplenomegaly, anemia,...
8.
Gourfinkel-An I, Baulac S, Nabbout R, Brice A, Baulac M, Leguern E
Rev Neurol (Paris)
. 2004 Jul;
160(5 Pt 2):S90-7.
PMID: 15269666
Major advances have recently been made in the understanding of the genetic bases of monogenic inherited epilepsies. For several idiopathic epilepsies, mutations in genes encoding subunits of ion channels or...
9.
Gourfinkel-An I, Parain K, Hartmann A, Mangiarini L, Brice A, Bates G, et al.
J Neurochem
. 2003 Sep;
86(6):1369-78.
PMID: 12950446
Huntington's disease is an autosomal dominant disorder with degeneration of medium size striatal neurones. As the disease evolves, other neuronal populations are also progressively affected. A transgenic mouse model of...
10.
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prudhomme J, et al.
Nat Genet
. 2001 Apr;
28(1):46-8.
PMID: 11326274
Major advances in the identification of genes implicated in idiopathic epilepsy have been made. Generalized epilepsy with febrile seizures plus (GEFS+), benign familial neonatal convulsions and nocturnal frontal lobe epilepsy,...