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Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1147 - 1148
  Genetic insights are blurring the boundaries of a classification based on the developmental processes of cell proliferation, neuronal migration, and... 
Neurology | CLINICAL NEUROLOGY | MALFORMATIONS | MUTATIONS | Phosphatidylinositol 3-Kinases - genetics | Malformations of Cortical Development - genetics | Mutation | Humans | Abnormalities, Multiple - genetics | Intellectual Disability - genetics | Families & family life | Cell growth | Kinases | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The Lancet Neurology, ISSN 1474-4422, 04/2019, Volume 18, Issue 4, pp. 335 - 336
[...]Dravet syndrome is usually caused by mutations in SCN1A, a gene that codifies for a neuronal sodium channel subunit; the function of the protein is... 
Climate change | Convulsions & seizures | Meetings | Temperature effects | Epilepsy | Carbon dioxide | Sodium channels (voltage-gated) | Mutation | Gene expression | Antiepileptic agents | Seizures | Emissions
Journal Article
Epilepsy Currents, ISSN 1535-7597, 07/2018, Volume 18, Issue 4, pp. 238 - 239
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 1, pp. e67 - e72
OBJECTIVETo evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1. METHODSA... 
FRONTAL-LOBE EPILEPSY | MIGRATING PARTIAL SEIZURES | DISEASE | MALARIA | PROLONGATION | PHENOTYPES | INFANCY | DEFICIENCY | GAIN | CLINICAL NEUROLOGY
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2017, Volume 81, Issue 2, pp. 328 - 329
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2018, Volume 13, Issue 1, pp. e0191546 - e0191546
Background KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable... 
ROLANDIC EPILEPSY | PROTEIN | ACETYLATION | MULTIDISCIPLINARY SCIENCES | Development and progression | Genetic aspects | Research | Genetic variation | Epilepsy in children | Index Medicus
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2017, Volume 81, Issue 2, pp. 328 - 329
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2017, Volume 81, Issue 2, pp. 328 - 329
Journal Article
Cell Reports, ISSN 2211-1247, 12/2018, Volume 25, Issue 10, pp. 2729 - 2741.e6
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has... 
evolution | MyoGEF | cortical development | periventricular heterotopia | RhoA | PLEKHG6 | NEURAL PROGENITORS | NEOCORTEX | RADIAL GLIAL-CELLS | PERIVENTRICULAR NODULAR HETEROTOPIA | OUTER SUBVENTRICULAR ZONE | MOUSE | FRAMEWORK | GENERATION | MUTATIONS | CEREBRAL-CORTEX | CELL BIOLOGY
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 09/2014, Volume 10, Issue 9, pp. 490 - 491
Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy... 
15Q13.3 MICRODELETIONS | HUMAN GENOME | IDIOPATHIC GENERALIZED EPILEPSY | 16P13.11 PREDISPOSE | COPY NUMBER VARIANTS | CLINICAL NEUROLOGY | Humans | Chromosome Disorders - complications | Epilepsy - genetics | Female | Male | DNA Copy Number Variations - genetics | Epilepsy - etiology | Index Medicus
Journal Article
Epileptic Disorders, ISSN 1294-9361, 04/2018, Volume 20, Issue 2, pp. 77 - 87
The International League against Epilepsy (ILAE) published in the April 2017 edition of Epilepsia three companion articles on the classification of seizures... 
epilepsy | seizure | International League Against Epilepsy | syndrome | caregiver | classification | people with epilepsy | COMMISSION | TERMINOLOGY | POSITION PAPER | CLINICAL NEUROLOGY | Epilepsy | Classification | Seizures | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 1, pp. e67 - e72
Journal Article
Epilepsy Currents, ISSN 1535-7597, 7/2018, Volume 18, Issue 4, pp. 238 - 239
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2019, Volume 90, Issue e7, pp. A4 - A4
Journal Article
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