-
1
-
-
0029088705
-
Migrating partial seizures in infancy: A malignant disorder with developmental arrest
-
et al.
-
Coppola G, Plouin P, Chiron C, et al. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 1995; 36: 1017-1024.
-
(1995)
Epilepsia
, vol.36
, pp. 1017-1024
-
-
Coppola, G.1
Plouin, P.2
Chiron, C.3
-
2
-
-
34347360539
-
Temporal lobe dual pathology in malignant migrating partial seizures in infancy
-
et al.
-
Coppola G, Operto FF, Auricchio G, et al. Temporal lobe dual pathology in malignant migrating partial seizures in infancy. Epileptic Disord 2007; 9: 145-148.
-
(2007)
Epileptic Disord
, vol.9
, pp. 145-148
-
-
Coppola, G.1
Operto, F.F.2
Auricchio, G.3
-
3
-
-
65549152163
-
Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology
-
Coppola G,. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia 2009; 50 (suppl 5): 49-51.
-
(2009)
Epilepsia
, vol.50
, Issue.SUPPL. 5
, pp. 49-51
-
-
Coppola, G.1
-
4
-
-
32044452240
-
Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy
-
et al.
-
Coppola G, Veggiotti P, Del Giudice EM, et al. Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. Brain Dev 2006; 28: 76-79.
-
(2006)
Brain Dev
, vol.28
, pp. 76-79
-
-
Coppola, G.1
Veggiotti, P.2
Del Giudice, E.M.3
-
5
-
-
79955752768
-
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy
-
et al.
-
Freilich ER, Jones JM, Gaillard WD, et al. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol 2011; 68: 665-671.
-
(2011)
Arch Neurol
, vol.68
, pp. 665-671
-
-
Freilich, E.R.1
Jones, J.M.2
Gaillard, W.D.3
-
6
-
-
80051530016
-
De novo SCN1A mutations in migrating partial seizures of infancy
-
et al.
-
Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011; 77: 380-383.
-
(2011)
Neurology
, vol.77
, pp. 380-383
-
-
Carranza Rojo, D.1
Hamiwka, L.2
McMahon, J.M.3
-
7
-
-
84865039582
-
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
-
et al.
-
Poduri A, Chopra SS, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012; 53: e146-e150.
-
(2012)
Epilepsia
, vol.53
-
-
Poduri, A.1
Chopra, S.S.2
Neilan, E.G.3
-
8
-
-
77957686537
-
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
-
et al.
-
Kurian MA, Meyer E, Vassallo G, et al. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 2010; 133: 2964-2970.
-
(2010)
Brain
, vol.133
, pp. 2964-2970
-
-
Kurian, M.A.1
Meyer, E.2
Vassallo, G.3
-
9
-
-
84868196065
-
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
-
et al.
-
Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012; 44: 1255-1259.
-
(2012)
Nat Genet
, vol.44
, pp. 1255-1259
-
-
Barcia, G.1
Fleming, M.R.2
Deligniere, A.3
-
10
-
-
77952777974
-
Duplication 16p11.2 in a child with infantile seizure disorder
-
et al.
-
Bedoyan JK, Kumar RA, Sudi J, et al. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A 2010; 152A: 1567-1574.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1567-1574
-
-
Bedoyan, J.K.1
Kumar, R.A.2
Sudi, J.3
-
12
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
et al.
-
Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
13
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Krawetz S. Misener S. eds. Totowa, NJ: Humana Press.
-
Rozen S, Skaletsky H,. Primer3 on the WWW for general users and for biologist programmers. In:, Krawetz S, Misener S, eds. Bioinformatics methods and protocols: methods in molecular biology. Totowa, NJ: Humana Press, 2000: 365-386.
-
(2000)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
14
-
-
84875218644
-
The mitochondrial transporter family SLC25: Identification, properties and physiopathology
-
Palmieri F,. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Mol Aspects Med 2013; 34: 465-484.
-
(2013)
Mol Aspects Med
, vol.34
, pp. 465-484
-
-
Palmieri, F.1
-
15
-
-
67650561215
-
A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3′,5′-diphosphate in human mitochondria
-
et al.
-
Fiermonte G, Paradies E, Todisco S, et al. A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3′,5′-diphosphate in human mitochondria. J Biol Chem 2009; 284: 18152-18159.
-
(2009)
J Biol Chem
, vol.284
, pp. 18152-18159
-
-
Fiermonte, G.1
Paradies, E.2
Todisco, S.3
-
16
-
-
34548503176
-
The insulin-like growth factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth
-
et al.
-
Floyd S, Favre C, Lasorsa FM, et al. The insulin-like growth factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth. Mol Biol Cell 2007; 18: 3545-3555.
-
(2007)
Mol Biol Cell
, vol.18
, pp. 3545-3555
-
-
Floyd, S.1
Favre, C.2
Lasorsa, F.M.3
-
17
-
-
0018337987
-
Direct methods for measuring metabolite transport and distribution in mitochondria
-
Palmieri F, Klingenberg M,. Direct methods for measuring metabolite transport and distribution in mitochondria. Methods Enzymol 1979; 56: 279-301.
-
(1979)
Methods Enzymol
, vol.56
, pp. 279-301
-
-
Palmieri, F.1
Klingenberg, M.2
-
18
-
-
2442650104
-
Identification of the mitochondrial GTP/GDP transporter in Saccharomyces cerevisiae
-
Vozza A, Blanco E, Palmieri L, Palmieri F,. Identification of the mitochondrial GTP/GDP transporter in Saccharomyces cerevisiae. J Biol Chem 2004; 279: 20850-20857.
-
(2004)
J Biol Chem
, vol.279
, pp. 20850-20857
-
-
Vozza, A.1
Blanco, E.2
Palmieri, L.3
Palmieri, F.4
-
19
-
-
0003408936
-
-
3rd ed. Baltimore, MD: Johns Hopkins University Press.
-
Ott JB,. Analysis of human genetic linkage. 3rd ed. Baltimore, MD: Johns Hopkins University Press, 1999.
-
(1999)
Analysis of Human Genetic Linkage
-
-
Ott, J.B.1
-
20
-
-
19944434207
-
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy
-
et al.
-
Molinari F, Raas-Rothschild A, Rio M, et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005; 76: 334-339.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 334-339
-
-
Molinari, F.1
Raas-Rothschild, A.2
Rio, M.3
-
21
-
-
70349997517
-
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
-
et al.
-
Molinari F, Kaminska A, Fiermonte G, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet 2009; 76: 188-194.
-
(2009)
Clin Genet
, vol.76
, pp. 188-194
-
-
Molinari, F.1
Kaminska, A.2
Fiermonte, G.3
-
22
-
-
0037205397
-
Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
-
et al.
-
Fiermonte G, Palmieri L, Todisco S, et al. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 2002; 277: 19289-19294.
-
(2002)
J Biol Chem
, vol.277
, pp. 19289-19294
-
-
Fiermonte, G.1
Palmieri, L.2
Todisco, S.3
-
23
-
-
73349110071
-
Exome sequencing identifies the cause of a Mendelian disorder
-
et al.
-
Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 2010; 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
-
24
-
-
78049336070
-
WDR62 is associated with the spindle pole and is mutated in human microcephaly
-
et al.
-
Nicholas AK, Khurshid M, Desir J, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 2010; 42: 1010-1014.
-
(2010)
Nat Genet
, vol.42
, pp. 1010-1014
-
-
Nicholas, A.K.1
Khurshid, M.2
Desir, J.3
-
25
-
-
78049332008
-
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
-
et al.
-
Yu TW, Mochida GH, Tischfield DJ, et al. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 2010; 42: 1015-1020.
-
(2010)
Nat Genet
, vol.42
, pp. 1015-1020
-
-
Yu, T.W.1
Mochida, G.H.2
Tischfield, D.J.3
-
26
-
-
78049336905
-
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
-
et al.
-
Bilguvar K, Ozturk AK, Louvi A, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010; 467: 207-210.
-
(2010)
Nature
, vol.467
, pp. 207-210
-
-
Bilguvar, K.1
Ozturk, A.K.2
Louvi, A.3
-
27
-
-
84884130368
-
De novo mutation in the classic epileptic encephalopathies
-
Epi4K Consortium and EPGP Investigators.
-
Epi4K Consortium and EPGP Investigators. De novo mutation in the classic epileptic encephalopathies. Nature 2013; 501: 217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
-
28
-
-
77951892877
-
Structure and function of mitochondrial carriers - Role of the transmembrane helix P and G residues in the gating and transport mechanism
-
Palmieri F, Pierri CL,. Structure and function of mitochondrial carriers-role of the transmembrane helix P and G residues in the gating and transport mechanism. FEBS Lett 2010; 584: 1931-1939.
-
(2010)
FEBS Lett
, vol.584
, pp. 1931-1939
-
-
Palmieri, F.1
Pierri, C.L.2
-
29
-
-
44349096827
-
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
-
et al.
-
Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008; 40: 782-788.
-
(2008)
Nat Genet
, vol.40
, pp. 782-788
-
-
Saitsu, H.1
Kato, M.2
Mizuguchi, T.3
-
30
-
-
77957945296
-
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
-
et al.
-
Deprez L, Weckhuysen S, Holmgren P, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010; 75: 1159-1165.
-
(2010)
Neurology
, vol.75
, pp. 1159-1165
-
-
Deprez, L.1
Weckhuysen, S.2
Holmgren, P.3
-
31
-
-
77956394126
-
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
-
et al.
-
Corbett MA, Bahlo M, Jolly L, et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 2010; 87: 371-375.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 371-375
-
-
Corbett, M.A.1
Bahlo, M.2
Jolly, L.3
-
32
-
-
77956361137
-
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
-
et al.
-
Falace A, Filipello F, La Padula V, et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 2010; 87: 365-370.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 365-370
-
-
Falace, A.1
Filipello, F.2
La Padula, V.3
-
33
-
-
84878122558
-
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
-
Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A,. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat 2013; 34: 869-872.
-
(2013)
Hum Mutat
, vol.34
, pp. 869-872
-
-
Milh, M.1
Falace, A.2
Villeneuve, N.3
Vanni, N.4
Cacciagli, P.5
Assereto, S.6
Nabbout, R.7
Benfenati, F.8
Zara, F.9
Chabrol, B.10
Villard, L.11
Fassio, A.12
|