Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl

Pediatric Neurology

Volumn 40, Issue 4, 2009, Pages 310-313

  Jackman, Christopher ^a   Horn, Nicole D ^a   Molleston, Jean P ^a   Sokol, Deborah K ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL RADIOGRAPHY; ARTICLE; AUTISM; AUTISM DIAGNOSTIC OBSERVATION SCALE; BRAIN BIOPSY; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONTACTIN ASSOCIATED PROTEIN LIKE 2 GENE; CORTICAL DYSPLASIA; ELECTROENCEPHALOGRAM; ENCEPHALOMALACIA; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GILLIAM AUTISM RATING SCALE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER FUNCTION TEST; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL LOBE;

ADOLESCENT; AUTISTIC DISORDER; EPILEPSY, COMPLEX PARTIAL; FEMALE; HEPATOMEGALY; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPLENOMEGALY;

EID: 62149099978     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.10.013     Document Type: Article

References (10)

1. Strauss K.A., Puffenberger E.G., Huentelman M.J., et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354 (2006) 1370-1377
2. Lord C., Risi S., Lambrecht L., et al. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30 (2000) 205-223
3. Gilliam J.E. Gilliam Autism Rating Scale: GARS. 1st ed (1995), Pro-Ed, Austin, TX
4. Murata Y., Itakura A., Matsuzawa K., Okumura A., Wakai K., and Mizutani S. Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia. Brain Dev 27 (2005) 17-21
5. Tekgul H., Serdaroglu G., Yalman O., and Tutuncuoglu S. Prognostic correlative values of the late-infancy MRI pattern in term infants with perinatal asphyxia. Pediatr Neurol 31 (2004) 35-41
6. Miller S.P., Shevell M.I., Patenaude Y., and O'Gorman A.M. Neuromotor spectrum of periventricular leukomalacia in children born at term. Pediatr Neurol 23 (2000) 155-159
7. Poll-The B.T., Wanders R.J., Ruiter J.P., et al. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Mol Genet Metab 81 (2004) 295-299
8. García-Cazorla A., Sans A., Baquero M., et al. White matter alterations associated with chromosomal disorders. Dev Med Child Neurol 46 (2004) 148-153
9. Gurses C., Gross D.W., Andermann F., et al. Periventricular leukomalacia and epilepsy: incidence and seizure pattern. Neurology 52 (1999) 341-345
10. Vernes S.C., Newbury D.F., Abrahams B.S., Winchester L., Nicod J., Groszer M., Alarcon M., Oliver P.L., Davies K.E., Geschwind D.H., Monaco A.P., and Fisher S.E. A functional genetic link between distinct developmental language disorders. N Engl J Med 359 (2008) 2337-2345