Startle epilepsy

Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.



Input patient's signs and symptoms


Narrow down the case reports



Total: 24 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
3
(4.0%)		 8548670
 Startle epilepsy presenting as drop attacks: a case report.
Lin YY, Su MS, Yiu CH, Kwan SY, Tu YF, Guo WY, Wong TT, Chang KP.
Zhonghua Yi Xue Za Zhi (Taipei). 1995;56(4):270-3.
Hemangioma
Child, Preschool Electroencephalography Epilepsy Functional Laterality Homo sapiens Male Reflex, Startle
3
(4.0%)		 6894024
 The "startle disease" in brain-damaged patients: report of a case.
Baier WK.
Neuropadiatrie. 1980;11(1):72-5.
Seizure
Brain Injuries Child Differential Diagnosis Epilepsy Females Homo sapiens Reflex, Startle
3
(4.0%)		 6444792
 Startle epilepsy complicating Down syndrome during adulthood.
Gimenez-Roldan S, Martin M.
Ann Neurol. 1980;7(1):78-80.
Seizure
Adult Down Syndrome Electroencephalography Epilepsy Females Homo sapiens
3
(4.0%)		 6424556
 Hyperekplexia: a syndrome of pathological startle responses.
Saenz-Lope E, Herranz-Tanarro FJ, Masdeu JC, Chacon Pena JR.
Ann Neurol. 1984;15(1):36-41.
Cataplexy
Adult Child Females Homo sapiens Male Reflex, Startle
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0001250 Seizures 13
HP:0002301 Hemiplegia 4
HP:0002524 Cataplexy 2
HP:0001298 Encephalopathy 1
HP:0002013 Vomiting 1
HP:0002133 Status epilepticus 1
HP:0002329 Drowsiness 1
HP:0002527 Falls 1
HP:0100021 Cerebral palsy 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID