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| Author | Identifier | Number of Items | Total Downloads |
|---|---|---|---|
| Scheffer, I |  https://orcid.org/0000-0002-2311-2174 |
11 | 408 |
| Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
|---|---|---|---|---|---|
| A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation | orcid:0000-0001-7201-2615; orcid:0000-0001-8759-6748; orcid:0000-0001-6154-0500; orcid:0000-0001-5188-6153; orcid:0000-0003-4880-2486; orcid:0000-0002-2311-2174; orcid:0000-0003-4580-841X; orcid:0000-0003-0668-5955; Puskarjov, M; Seja, P; Heron, SE; Willi | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/217293 | 24 |
| Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities | orcid:0000-0003-4580-841X; orcid:0000-0002-7917-5326; orcid:0000-0002-2311-2174; Mandelstam, SA; Leventer, RJ; Sandow, A; McGillivray, G; van Kogelenberg, M; Guerrini, R; Robertson, S; Berkovic, SF; Jackson, GD; Scheffer, IE | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/41364 | 3 |
| CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures | orcid:0000-0003-2062-8623; orcid:0000-0003-4156-6812; orcid:0000-0003-4580-841X; orcid:0000-0002-6219-9479; orcid:0000-0002-2311-2174; Thomas, RH; Zhang, LM; Carvill, GL; Archer, JS; Heavin, SB; Mandelstam, SA; Craiu, D; Berkovic, SF; Gill, DS; Mefford, H | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/91989 | 3 |
| De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy | orcid:0000-0003-4580-841X; orcid:0000-0001-9287-0414; orcid:0000-0002-7238-7342; orcid:0000-0002-6358-9196; orcid:0000-0003-0044-4632; orcid:0000-0003-4880-2486; orcid:0000-0002-2311-2174; Berkovic, SF; Dixon-Salazar, T; Goldstein, DB; Heinzen, EL; Laughl | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/220823 | 22 |
| Does variation in NIPA2 contribute to genetic generalized epilepsy? | orcid:0000-0003-2739-0515; orcid:0000-0003-1949-8489; orcid:0000-0002-2311-2174; orcid:0000-0003-4580-841X; Hildebrand, MS; Damiano, JA; Mullen, SA; Bellows, ST; Scheffer, IE; Berkovic, SF | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/216651 | 57 |
| Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy | orcid:0000-0003-1949-8489; orcid:0000-0001-5132-0774; orcid:0000-0003-4580-841X; orcid:0000-0002-2311-2174; orcid:0000-0002-7884-6861; Corbett, MA; Bellows, ST; Li, M; Carroll, R; Micallef, S; Carvill, GL; Myers, CT; Howell, KB; Maljevic, S; Lerche, H; Ga | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213182 | 1 |
| Early neuroimaging markers of FOXP2 intragenic deletion | orcid:0000-0002-8640-6217; orcid:0000-0003-2739-0515; orcid:0000-0002-2311-2174; orcid:0000-0001-5132-0774; orcid:0000-0001-7159-8079; orcid:0000-0003-1147-7405; Liegeois, FJ; Hildebrand, MS; Bonthrone, A; Turner, SJ; Scheffer, IE; Bahlo, M; Connelly, A; | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213181 | 34 |
| Familial Mesial Temporal Lobe Epilepsy and the Borderland of Deja Vu | orcid:0000-0002-7855-7066; orcid:0000-0003-1949-8489; orcid:0000-0002-5020-260X; orcid:0000-0003-3778-1376; orcid:0000-0002-2311-2174; orcid:0000-0001-7310-276X; orcid:0000-0002-7198-8621; orcid:0000-0003-4580-841X; Perucca, P; Crompton, DE; Bellows, ST; | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/192308 | 3 |
| Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder | orcid:0000-0002-2311-2174; orcid:0000-0002-2678-1576; Richard, AE; Scheffer, IE; Wilson, SJ | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/123616 | 256 |
| Genetics of epilepsy The testimony of twins in the molecular era | orcid:0000-0001-8759-6748; orcid:0000-0002-2311-2174; orcid:0000-0002-8567-173X; orcid:0000-0003-4580-841X; Vadlamudi, L; Milne, RL; Lawrence, K; Heron, SE; Eckhaus, J; Keay, D; Connellan, M; Torn-Broers, Y; Howell, RA; Mulley, JC; Scheffer, IE; Dibbens, | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/190767 | 1 |
| PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures | orcid:0000-0002-2311-2174; orcid:0000-0003-4880-2486; orcid:0000-0001-8759-6748; orcid:0000-0003-4580-841X; Scheffer, IE; Grinton, BE; Heron, SE; Kivity, S; Afawi, Z; Iona, X; Goldberg-Stern, H; Kinali, M; Andrews, I; Guerrini, R; Marini, C; Sadleir, LG; | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/54886 | 4 |
