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Ingrid E Scheffer

Showing results (261-270 of 586) with videos related to

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Brain : a Journal of Neurology|April 22, 2014
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndromeChristopher A Reid, Bryan Leaw, Kay L Richards, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsMichael Field, Ingrid E Scheffer, Deepak Gill, et al.
Brain Communications|June 2, 2023
Cation leak: a common functional defect causing <i>HCN1</i> developmental and epileptic encephalopathyChaseley E McKenzie, Ian C Forster, Ming S Soh, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Acta Epileptologica|April 11, 2025
Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsyXiaoying Qiao, Zimeng Ye, Jialun Wen, et al.
Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
Epilepsia|April 19, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyAilsa McLellan, Hilary A Phillips, Christopher Rittey, et al.
Neurology|September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilitySaul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Epilepsia|April 11, 2023
Recognition and epileptology of protracted CLN3 diseaseJillian M Cameron, John A Damiano, Bronwyn Grinton, et al.
Pageof 59

Showing results (261-270 of 586) with videos related to

Sort By:
Pageof 59
Brain : a Journal of Neurology|April 22, 2014
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndromeChristopher A Reid, Bryan Leaw, Kay L Richards, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsMichael Field, Ingrid E Scheffer, Deepak Gill, et al.
Brain Communications|June 2, 2023
Cation leak: a common functional defect causing <i>HCN1</i> developmental and epileptic encephalopathyChaseley E McKenzie, Ian C Forster, Ming S Soh, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Acta Epileptologica|April 11, 2025
Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsyXiaoying Qiao, Zimeng Ye, Jialun Wen, et al.
Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
Epilepsia|April 19, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyAilsa McLellan, Hilary A Phillips, Christopher Rittey, et al.
Neurology|September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilitySaul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Epilepsia|April 11, 2023
Recognition and epileptology of protracted CLN3 diseaseJillian M Cameron, John A Damiano, Bronwyn Grinton, et al.
Pageof 59