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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. Tchikviladzé M, et al. Among authors: gourfinkel an i. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11. J Neurol Neurosurg Psychiatry. 2015. PMID: 25118206
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, Rastetter A, Keren B, Des Portes V, Toulouse J, Gourfinkel-An I, Leguern E, Depienne C, Mignot C, Nava C. Moretti R, et al. Among authors: gourfinkel an i. Eur J Paediatr Neurol. 2021 Jul;33:121-124. doi: 10.1016/j.ejpn.2021.05.018. Epub 2021 Jun 5. Eur J Paediatr Neurol. 2021. PMID: 34174751
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease.
Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E. Hainque E, et al. Among authors: gourfinkel an i. Rev Neurol (Paris). 2018 Jan-Feb;174(1-2):56-65. doi: 10.1016/j.neurol.2017.06.005. Epub 2017 Jul 5. Rev Neurol (Paris). 2018. PMID: 28688606
Fever, genes, and epilepsy.
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M. Baulac S, et al. Lancet Neurol. 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. Lancet Neurol. 2004. PMID: 15207799 Review.
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