scholarly journals New Candidate Genes for Infantile Spasms and Mental Retardation

2004 ◽  
Vol 4 (1) ◽  
pp. 11-12
Author(s):  
Peter B. Crino
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Infantile Spasms

Infantile Spasms Due to Unilateral Cerebral Infarcts

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ
Keyword(s):  
Mental Retardation ◽  
Genetic Disorders ◽  
Infantile Spasms ◽  
Seizure Disorder ◽  
Neurologic Examination ◽  
Cerebral Infarcts ◽  
Symptomatic Group ◽  
High Incidence ◽  
Underlying Disorder ◽  
Group 1

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

Infantile Spasms, Hypsarhythmia, and Mental Retardation

JAMA ◽  
1962 ◽  
Vol 182 (5) ◽  
pp. 523 ◽  
Author(s):  
J. Gordon Millichap
Keyword(s):  
Mental Retardation ◽  
Infantile Spasms

A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2

2003 ◽  
Vol 104 (s49) ◽  
pp. 39P-40P
Author(s):  
Simon Holden ◽  
Andreas Schroer ◽  
Sabine Kuebart ◽  
Ilke Slosarek ◽  
Catherine Bovie ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Mapping Strategy ◽  
Chromosome Breakpoint ◽  
Breakpoint Mapping

scholarly journals Infantile Spasms: Little Seizures, BIG Consequences

2006 ◽  
Vol 6 (3) ◽  
pp. 63-69 ◽  
Author(s):  
W. Donald Shields
Keyword(s):  
Mental Retardation ◽  
Seizure Control ◽  
Early Recognition ◽  
Infantile Spasms ◽  
Diagnostic Evaluation ◽  
Proper Treatment ◽  
Important Impact

Infantile spasms is one of the “catastrophic childhood epilepsies” because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families.

scholarly journals Autism and mental retardation: the genetic relationship and contribution

2001 ◽  
Vol 7 (3) ◽  
pp. 536-543
Author(s):  
M. A. El Hazmi
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Genetic Relationship ◽  
Genetic Disorders ◽  
Neurodevelopmental Disorder ◽  
Signs And Symptoms ◽  
Genetic Etiology ◽  
Etiological Factors

Autism, a neurodevelopmental disorder first described in 1943, is reviewed. The signs and symptoms of the disorder are described together with the etiological factors. The evidence for a genetic etiology of autism and its association with other genetic disorders are discussed. Possible candidate genes for autism are described.

scholarly journals Functional Consequences of Mutations inCDKL5, an X-linked Gene Involved in Infantile Spasms and Mental Retardation

2006 ◽  
Vol 281 (42) ◽  
pp. 32048-32056 ◽  
Author(s):  
Ilaria Bertani ◽  
Laura Rusconi ◽  
Fabrizio Bolognese ◽  
Greta Forlani ◽  
Barbara Conca ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Infantile Spasms ◽  
Linked Gene ◽  
Functional Consequences

scholarly journals West Syndrome: How Early is Early for its Presentation?

2013 ◽  
Vol 33 (3) ◽  
pp. 239-242
Author(s):  
Bikash Shrestha ◽  
Kamal Kiran ◽  
Ranjit Ghulliani
Keyword(s):  
Mental Retardation ◽  
Neonatal Period ◽  
Infantile Spasms ◽  
West Syndrome ◽  
Rare Presentation

West syndrome is the triad of mental retardation, infantile spasms and characteristic hypsarrhythmia on electroencephalograph. West syndrome usually presents in mid-infancy period. We present this as a rare presentation of West syndrome in the neonatal period. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8639   J. Nepal Paediatr. Soc. 2013;33(3):239-242

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