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Epilepsy, photogenic, with spastic diplegia and intellectual disability

MedGen UID:
347333
•Concept ID:
C1856931
•
Disease or Syndrome
Synonym: Epilepsy, photogenic, with spastic diplegia and mental retardation
 
Monarch Initiative: MONDO:0009186
OMIM®: 226800

Clinical features

From HPO
Spastic diplegia
MedGen UID:
44181
•Concept ID:
C0023882
•
Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
See: Feature record | Search on this feature
Photosensitive tonic-clonic seizure
MedGen UID:
335345
•Concept ID:
C1846131
•
Disease or Syndrome
Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Long-term prognosis of asphyxiated full-term neonates with CNS complications.
Ishikawa T, Ogawa Y, Kanayama M, Wada Y
Brain Dev 1987;9(1):48-53. doi: 10.1016/s0387-7604(87)80010-4. PMID: 3605539
A prospective study of mental and motoric development in premature children with a birth weight less than 2000 grammes. The prognostic value of pathological neurological signs.
Andersen B
Psychiatr Neurol Med Psychol Beih 1970;13-14:75-83. PMID: 5006294

Diagnosis

A prospective study of mental and motoric development in premature children with a birth weight less than 2000 grammes. The prognostic value of pathological neurological signs.
Andersen B
Psychiatr Neurol Med Psychol Beih 1970;13-14:75-83. PMID: 5006294

Therapy

Startle epilepsy complicating Down syndrome during adulthood.
Giménez-Roldán S, Martín M
Ann Neurol 1980 Jan;7(1):78-80. doi: 10.1002/ana.410070114. PMID: 6444792

Prognosis

Long-term prognosis of asphyxiated full-term neonates with CNS complications.
Ishikawa T, Ogawa Y, Kanayama M, Wada Y
Brain Dev 1987;9(1):48-53. doi: 10.1016/s0387-7604(87)80010-4. PMID: 3605539
A prospective study of mental and motoric development in premature children with a birth weight less than 2000 grammes. The prognostic value of pathological neurological signs.
Andersen B
Psychiatr Neurol Med Psychol Beih 1970;13-14:75-83. PMID: 5006294

Clinical prediction guides

Long-term prognosis of asphyxiated full-term neonates with CNS complications.
Ishikawa T, Ogawa Y, Kanayama M, Wada Y
Brain Dev 1987;9(1):48-53. doi: 10.1016/s0387-7604(87)80010-4. PMID: 3605539

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