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Journal Article
Brain, ISSN 0006-8950, 04/2019, Volume 142, Issue 4, pp. 966 - 977
The neurobiological basis of developmental speech disorders remains elusive. Liégeois et al. present neuroimaging findings from a large family with childhood... 
METAANALYSIS | MRI | PREVALENCE | NEUROSCIENCES | FOXP2 | CLINICAL NEUROLOGY | CHILDREN | childhood apraxia of speech | speech | MULTIGENERATIONAL FAMILY | TRACTOGRAPHY | speech disorder | inherited | MOTOR | NEUROANATOMY | CHILDHOOD APRAXIA
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2017, Volume 81, Issue 5, pp. 677 - 689
Journal Article
Neurology, ISSN 0028-3878, 09/2016, Volume 87, Issue 12, pp. 1302 - 1303
A 13-year-old boy developed lower limb flaccid paralysis 24 hours after accidental ingestion of an odorless and tasteless potassium hydroxide liquid. He had... 
CLINICAL NEUROLOGY | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 230 - 234
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy.... 
ketogenic diet | lysosomal disorders | cherry‐red spot | mosaic | GM1 gangliosidosis | skin biopsy | whole exome sequencing | uniparental disomy | cherry-red spot | GENETICS & HEREDITY | Gangliosides | Cornea | Gangliosidosis | Uniparental disomy | Ketogenesis | Biopsy | Skin | Mutation | Hybridization | Chromosome 3 | Metabolic disorders | Index Medicus
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 05/2015, Volume 2, Issue 5, pp. 575 - 580
Whole‐exome sequencing of two brothers with drug‐resistant, early‐onset, focal epilepsy secondary to extensive type IIA focal cortical dysplasia identified a... 
ACTIVATION | VARIANTS | AKT3 | SPECTRUM | SEQUENCING DATA | NEUROSCIENCES | BRAIN MALFORMATIONS | FOCAL EPILEPSY | CLINICAL NEUROLOGY | Mutation | Brief Communications
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 07/2019, Volume 6, Issue 7, pp. 1338 - 1344
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause... 
MAMMALIAN TARGET | ACTIVATION | TUBERS | NEUROSCIENCES | SOMATIC MUTATIONS | FOCAL EPILEPSY | CLINICAL NEUROLOGY | Convulsions & seizures | Histopathology | Brain research | Neurons | Social interaction | Lasers | Motor ability | Families & family life | Mutation | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 11/2013, Volume 81, Issue 19, pp. 1697 - 1703
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of... 
Journal Article
Neuron, ISSN 0896-6273, 01/2018, Volume 97, Issue 1, pp. 59 - 66.e5
X-linked diseases typically exhibit more severe phenotypes in males than females. In contrast, ( ) mutations cause epilepsy in heterozygous females but spare... 
epilepsy | cell-cell adhesion code | protocadherins | adhesion molecules | protocadherin 19 | cell sorting | PCDH19-GCE | cortical development | CORTEX | MOUSE | ALPHA | FEMALE-LIMITED EPILEPSY | PROTOCADHERINS | EXPRESSION | NEUROSCIENCES | BRAIN | Medical colleges | Neurosciences | Epilepsy | Autism | Clonal deletion | Neurons | Protocadherin | Cortex | Cell adhesion | Sex differences | Heredity | Mutation | Experiments | Cell adhesion & migration | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 511 - 514
Journal Article