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.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

Total: 16

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PMID (PMCID)
24950661	MALE	Infant
	A case of startle epilepsy associated with IL1RAPL1 gene deletion.
	Dinopoulos A, Stefanou MI, Attilakos A, Tsirouda M, Papaevangelou V. Pediatr Neurol. 2014;51(2):271-4.
	Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli.
23531553	FEMALE
	Corpus callosotomy in a patient with startle epilepsy.
	Gomez NG, Hamad AP, Marinho M, Tavares IM, Carrete H Jr, Caboclo LO Jr, Yacubian EM Jr, Centeno R Jr. Epileptic Disord. 2013;15(1):76-9.
	Corpus callosotomy may be considered in patients with startle epilepsy and tonic seizures, in the absence of focal lesions amenable to surgery.
23531553	FEMALE
	Corpus callosotomy in a patient with startle epilepsy.
	Gomez NG, Hamad AP, Marinho M, Tavares IM, Carrete H Jr, Caboclo LO Jr, Yacubian EM Jr, Centeno R Jr. Epileptic Disord. 2013;15(1):76-9.
	Startle epilepsy is a syndrome of reflex epilepsy in which the seizures are precipitated by a sudden and surprising, usually auditory, stimulus.
23141145	MALE
	Seizure-free after surgery in a patient with non-lesional startle epilepsy: a case report.
	Sun YP, Zhu HW, Zhang SW, Huang ZY, Li LP, Qiao L, Du W, Wang YP. Epilepsy Behav. 2012;25(4):700-3.
	Seizure-free after surgery in a patient with non-lesional startle epilepsy: a case report.
22675038	MALE	Middle Aged
	Adult onset startle epilepsy.
	Moseley BD, Shin C. BMJ Case Rep. 2011;2011:.
	The present case demonstrates that startle epilepsy can rarely be diagnosed in adults; typically seizure onset in this condition is during infancy to childhood.
19400869	FEMALE	Child
	Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies.
	Saeki K, Saito Y, Sugai K, Nakagawa E, Komaki H, Sakuma H, Sasaki M, Kaneko Y. Epilepsia. 2009;50(5):1274-9.
	Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies.
15668049	MIXED_SAMPLE	Child
	The movement disorders of Coffin-Lowry syndrome.
	Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. Brain Dev. 2005;27(2):108-13.
	One of our adult patients had several types of movement disorder and epilepsy that merged seamlessly: there was true cataplexy triggered by telling a joke, something close to cataplexy ('cataplexy') triggered by sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures.
15324827	MALE	Child
	Intractable reflex audiogenic epilepsy successfully treated by peri-insular hemispherotomy.
	Martinez-Manas R, Daniel RT, Debatisse D, Maeder-Ingvar M, Meagher-Villemure K, Villemure JG, Deonna T. Seizure. 2004;13(7):486-90.
	We report a case of an infantile hemiplegia seizure syndrome (IHSS) that presented with intractable reflex audiogenic startle epilepsy which in itself is an uncommon form of seizure disorder.
15324827	MALE	Child
	Intractable reflex audiogenic epilepsy successfully treated by peri-insular hemispherotomy.
	Martinez-Manas R, Daniel RT, Debatisse D, Maeder-Ingvar M, Meagher-Villemure K, Villemure JG, Deonna T. Seizure. 2004;13(7):486-90.
	We report a case of an infantile hemiplegia seizure syndrome (IHSS) that presented with intractable reflex audiogenic startle epilepsy which in itself is an uncommon form of seizure disorder.
10746422	MALE	Child
	Postoperative seizure outcome after corpus callosotomy in reflex epilepsy.
	Kwan SY, Wong TT, Chang KP, Yang TF, Lee YC, Guo WY, Su MS. Zhonghua Yi Xue Za Zhi (Taipei). 2000;63(3):240-6.
	Patient 1 had Lennox-Gastaut syndrome with auditory-induced generalized atonic or tonic seizures (startle epilepsy), which decreased by 60% after callosotomy.
10403230	FEMALE	Adult
	A case of startle epilepsy and SSMA seizures documented with subdural recordings.
	Serles W, Leutmezer F, Pataraia E, Olbrich A, Groppel G, Czech T, Baumgartner C. Epilepsia. 1999;40(7):1031-5.
	A case of startle epilepsy and SSMA seizures documented with subdural recordings.
9578019	MALE	Adult
	Startle epilepsy with infantile hemiplegia: report of two cases improved by surgery.
	Oguni H, Hayashi K, Usui N, Osawa M, Shimizu H. Epilepsia. 1998;39(1):93-8.
	To study the effectiveness of surgical therapy on 2 patients with startle epilepsy with infantile brain damage (SEIBD), a rare but distinctive epileptic syndrome characterized by motor seizures resistant to antiepileptic drugs (AEDs).
8805177	MALE
	Vomiting attack with ACTH and ADH discharge improves startle epilepsy.
	Hayashi M, Yasaka A, Maruki K. Pediatr Neurol. 1996;14(4):322-5.
	Because startle-induced epileptic seizures are resistant to conventional antiepileptic therapy, this case is informative for the treatment of startle epilepsy.
6444792	FEMALE	Adult
	Startle epilepsy complicating Down syndrome during adulthood.
	Gimenez-Roldan S, Martin M. Ann Neurol. 1980;7(1):78-80.
	A woman with Down syndrome--a trisomy 21 karyotype--developed severe startle epilepsy and spontaneous seizures at the age of 20 years.
6444792	FEMALE	Adult
	Startle epilepsy complicating Down syndrome during adulthood.
	Gimenez-Roldan S, Martin M. Ann Neurol. 1980;7(1):78-80.
	Triggering factors, seizure patterns, and ictal electroencephalograms were the same as in startle epilepsy occurring in children with cerebral palsy but differed in that there was no clinical or radiological evidence of a focal brain lesion in the vicinity of the motor supplementary cortex.
6894024	FEMALE	Child
	The "startle disease" in brain-damaged patients: report of a case.
	Baier WK. Neuropadiatrie. 1980;11(1):72-5.
	Furthermore, two related, non-epileptic paroxysmal startle syndromes, the "essential startle disease" and the "hereditary startle syndrome" are described and contrasted with "epileptic seizures induced by unexpected sensory stimuli" or "startle epilepsy".