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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 77 - 86
Journal Article
Pediatric Neurology, ISSN 0887-8994, 04/2019, Volume 93, pp. 43 - 49
Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia,... 
CNTNAP1 | Congenital hypotonia | Congenital hypomyelinating neuropathy | Cranial nerve palsies | Seizures | CLINICAL NEUROLOGY | CONTACTIN | GENE | MUTATION | JUNCTIONS | CASPR | PEDIATRICS | ARTHROGRYPOSIS MULTIPLEX CONGENITA | Medicine, Experimental | Medical research | Medical colleges | Genetic disorders | Seizures (Medicine) | Mortality
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 3, pp. 462 - 473
Journal Article
Congenital hypothyroidism presenting with seizures in a newborn, 04/2004
Hypothyroidism is not known to present with seizures in neonates. This report describes a newborn who presented with seizures that were not controlled with... 
Pediatrics | Neurology | pn04022 seizures, congenital hypothyroidism
Journal
Chest, ISSN 0012-3692, 03/2016, Volume 149, Issue 3, pp. 809 - 815
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 3, pp. 140 - 147
Abstract Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion... 
Medical Education | CYFIP1 | BP1–BP2 | 15q11.2 microdeletion | NIPA1 | TUBGCP5 | Congenital heart disease | NIPA2 | COPY-NUMBER VARIANTS | ANGELMAN-SYNDROME | DISORDERS | DELETION | CHILDHOOD ABSENCE EPILEPSY | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | 4 GENES | BP1-BP2 | PRADER-WILLI-SYNDROME | CRITICAL REGION | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Middle Aged | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Heart Diseases - congenital | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Mental Disorders - genetics | Adult | Epilepsy - genetics | Female | Membrane Proteins - metabolism | Mental Disorders - diagnosis | Child | Developmental Disabilities - diagnosis | Chromosome Deletion | Membrane Proteins - genetics | Speech Disorders - genetics | In Situ Hybridization, Fluorescence | Chromosomes, Human, Pair 15 - genetics | Epilepsy - diagnosis | Heart Diseases - diagnosis | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Comparative Genomic Hybridization | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Chromosome Aberrations | Adaptor Proteins, Signal Transducing - metabolism | Heart Diseases - genetics | Cohort Studies | Genetic disorders | Cardiac patients | Epilepsy | Cytogenetics | Seizures (Medicine) | Heart diseases | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
NEUROLOGY INDIA, ISSN 0028-3886, 11/2018, Volume 66, Issue 6, pp. 1847 - 1847
There was a history of dysarthria and drooling of saliva. Since last 3 years, the patient had a history of episodes of momentary lapses of awareness with loss... 
NEUROSCIENCES | Care and treatment | Genetic aspects | Children | Diagnosis | Diseases | Ostomy | Convulsions & seizures | Nuclear magnetic resonance--NMR | Congenital diseases | Motor ability | Patients | Speech therapy
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 09/2019, Volume 129, pp. 130 - 143
Congenital microcephaly is highly associated with intellectual disability. Features of autosomal recessive primary microcephaly subtype 3 (MCPH3) also include... 
Cdk5rap2 | Neuronal differentiation | Microcephaly | Synaptic transmission | Dendritic morphogenesis | MIGRATION | PRIMARY VISUAL-CORTEX | SYNAPSE DEVELOPMENT | MATURATION | NEUROSCIENCES | GABAERGIC INTERNEURONS | GABA | NEURONS | POOL | EXPRESSION | Brain | Genetic disorders | Neurons | Stem cells | Seizures (Medicine) | Pediatric neurology | Neurophysiology
Journal Article
BMJ Case Reports, ISSN 1757-790X, 06/2019, Volume 12, Issue 6, p. e228855
Vertical transmission of dengue has been documented and is associated with diverse presentations in newborns. Care of such babies requires meticulous support... 
epilepsy and seizures | tropical medicine (infectious disease) | neonatal intensive care | pulmonary hypertension | Encephalitis | Epidemics | Pneumonia | Intensive care | Congenital diseases | Mortality | Dengue fever | Cardiovascular disease | Pulmonary hypertension | Case studies | Antibiotics | Blood platelets | Preeclampsia | Nonsteroidal anti-inflammatory drugs
Journal Article
The Indian journal of radiology & imaging, ISSN 0971-3026, 01/2019, Volume 29, Issue 1, pp. 99 - 103
Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic... 
Genetic disorders | Research | Diagnosis | Magnetic resonance imaging | Biotinidase deficiency | neurometabolic disorder | developmental delay | seizures | Case Report | Biotinidase deficiency; developmental delay; neurometabolic disorder; seizures
Journal Article