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Publications of A. Arzimanoglou
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Articles in journal or book chapters
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C. Depienne,
O. Trouillard,
C. Saint-Martin,
I. Gourfinkel-An,
D. Bouteiller,
W. Carpentier,
B. Keren,
B. Abert,
A. Gautier,
S. Baulac,
A. Arzimanoglou,
C. Cazeneuve,
R. Nabbout,
and E. LeGuern.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet,
46(3):183-91,
2009.
Note: LetterResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Epilepsies,
Myoclonic/*genetics,
Female,
Gene Deletion,
Gene Rearrangement,
Humans,
Infant,
Infant,
Newborn,
Male,
*Mutation,
Nerve Tissue Proteins/*genetics,
Nucleic Acid Amplification Techniques,
Sequence Analysis,
DNA,
Sodium Channels/*genetics.
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C. Depienne,
O. Trouillard,
C. Saint-Martin,
I. Gourfinkel-An,
D. Bouteiller,
W. Carpentier,
B. Keren,
B. Abert,
A. Gautier,
S. Baulac,
A. Arzimanoglou,
C. Cazeneuve,
R. Nabbout,
and E. LeGuern.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet,
46(3):183-91,
2009.
Note: LetterResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Epilepsies,
Myoclonic/*genetics,
Female,
Gene Deletion,
Gene Rearrangement,
Humans,
Infant,
Infant,
Newborn,
Male,
*Mutation,
Nerve Tissue Proteins/*genetics,
Nucleic Acid Amplification Techniques,
Sequence Analysis,
DNA,
Sodium Channels/*genetics.
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J. de Bellescize,
N. Boutry,
E. Chabrol,
N. Andre-Obadia,
A. Arzimanoglou,
E. Leguern,
S. Baulac,
A. Calender,
P. Ryvlin,
and G. Lesca.
A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.
Epilepsy Res,
85(1):118-22,
2009.
Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands.
[WWW]
Keyword(s): Adolescent,
Adult,
Aged,
Animals,
Asparagine/genetics,
COS Cells,
Cercopithecus aethiops,
Epilepsy,
Temporal Lobe/*complications/*genetics,
*Family Health,
Female,
Humans,
Male,
Middle Aged,
Migraine Disorders/*complications/*genetics,
Proteins/*genetics,
Sequence Deletion/*genetics,
Transfection/methods.
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C. Depienne,
A. Arzimanoglou,
O. Trouillard,
E. Fedirko,
S. Baulac,
C. Saint-Martin,
M. Ruberg,
C. Dravet,
R. Nabbout,
M. Baulac,
I. Gourfinkel-An,
and E. LeGuern.
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Hum Mutat,
27(4):389,
2006.
Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
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C. Depienne,
O. Trouillard,
R. Nabbout,
I. Gourfinkel-An,
A. Arzimanoglou,
O. Dulac,
M. Baulac,
and E. Leguern.
Mutation analysis of the SCN1A gene in 92 patients with severe myoclonic epilepsy of infancy.
Epilepsia,
47:90-90,
2006.
Note: Suppl. 3.
[WWW]
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M. C. Picot,
D. Neveu,
P. Kahane,
A. Crespel,
P. Gelisse,
E. Hirsch,
P. Derambure,
S. Dupont,
E. Landre,
F. Chassoux,
L. Valton,
J. P. Vignal,
C. Marchal,
A. Rougier,
C. Lamy,
F. Semah,
A. Biraben,
A. Arzimanoglou,
J. Petit,
P. Thomas,
P. Dujols,
and P. Ryvlin.
[Cost-effectiveness of epilepsy surgery in a cohort of patients with medically intractable partial epilepsy--preliminary results].
Rev Neurol (Paris),
160 Spec No 1:5S354-67,
2004.
Note: Comparative StudyEnglish AbstractJournal ArticleResearch Support, Non-U.S. Gov'tReviewFrance.
[WWW]
Keyword(s): Adolescent,
Adult,
Anticonvulsants/economics/therapeutic use,
Cohort Studies,
Combined Modality Therapy,
Cost of Illness,
Cost-Benefit Analysis,
Direct Service Costs,
Drug Costs,
Drug Resistance,
Epilepsies,
Partial/drug therapy/economics/psychology/*surgery,
Female,
Follow-Up Studies,
France,
Humans,
Male,
Middle Aged,
Neurosurgical Procedures/*economics,
Prospective Studies,
Quality of Life,
Recurrence,
Severity of Illness Index,
Treatment Outcome.
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Last modified: Thu May 6 18:22:34 2010
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