Dropdowns and Lists

The classification of epilepsy is multiaxial and current practice advocates describing a patient's epilepsy using the DESSCRIBE model. This has been built into Epilepsy12 in the Multiaxial Diagnosis tab.

Episodes

This recognises that a child's epilepsy is often made up of different episodes, some of which are witnessed, others not, and each may have different semiology, so documenting as many as possible helps the clinician build a picture that can lead them ultimately to make a diagnosis. E12 seeks to capture as much of this and seeks to gain further information an knowledge in semiology - how to describe a seizure. In the description, users are encouraged to describe the events of a seizure in their own words and the platform will compare these against a validated list (from the International League against Epilepsy) from 2017. In this process it is hoped through text analysis that a larger list of key words can be built to improve on what is currently published.

Syndromes

This comprises a list:

syndrome
Self-limited (familial) neonatal epilepsy
Self-limited (familial) infantile epilepsy
Self-limited familial neonatal-infantile epilepsy
Self-limited epilepsy with centrotemporal spikes
Self-limited epilepsy with autonomic seizures
Childhood occipital visual epilepsy
Photosensitive occipital lobe epilepsy
Mesial temporal lobe epilepsy with hippocampal sclerosis
Familial mesial temporal lobe epilepsy
Sleep-related hypermotor (hyperkinetic) epilepsy
Familial focal epilepsy with variable foci
Epilepsy with auditory features
Genetic epilepsy with febrile seizures plus
Myoclonic epilepsy in infancy
Epilepsy with myoclonic absences
Epilepsy with eyelid myoclonia
Childhood absence epilepsy
Juvenile absence epilepsy
Juvenile myoclonic epilepsy
Epilepsy with generalized tonic–clonic seizures alone
Early infantile DEE
Epilepsy of infancy with migrating focal seizures
Infantile epileptic spasms syndrome
Dravet syndrome
Etiology-specific DEEs
KCNQ2-DEE
Pyridoxine-dependent and pyridox(am)ine 5′ phosphate deficiency DEE
CDKL5-DEE
PCDH19 clustering epilepsy
GLUT1DS-DEE
Sturge–Weber syndrome
Gelastic seizures with HH
Epilepsy with myoclonic–atonic seizures
Lennox–Gastaut syndrome
DEE or EE with spike-and-wave activation in sleep
Febrile infection-related epilepsy syndrome
Hemiconvulsion–hemiplegia–epilepsy
Rasmussen syndrome
Progressive myoclonus epilepsies
Epilepsy with reading-induced seizures
Epilepsy with myoclonic atonic seizures (Doose syndrome)

last updated 21/12/24

If you think this list needs further additions, please contact the Epilepsy12 team.

Epilepsy Causes

Where possible these are maintained using the SNOMED-CT classification system. Epilepsy is a fast-moving science and causes are identified faster than SNOMED can update, so E12 maintains its own list of causes, associating them where possible with the SNOMED-CT identifier and preferred term. Currently this list includes:

conceptId	term	preferredTerm
879939002	14q32 deletion syndrome	14q32 deletion syndrome
699254009	15q13.3 deletion syndrome	15q13.3 microdeletion
880093002	Monosomy 17q11	17q11 deletion syndrome
767263007	Velocardiofacial syndrome	22q11.2 deletion syndrome
699310000	Phelan-McDermid syndrome	22q13.3 deletion syndrome
791000124107	HSD10 disease	2-methyl-3-hydroxybutyric aciduria
None	2p13.3 deletion	2p13.3 deletion
711409002	MEGDEL syndrome	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
783161005	ABri amyloidosis	ABri amyloidosis
783258000	ADan amyloidosis	ADan amyloidosis
62009002	Kufs' disease	Adult neuronal ceroid lipofuscinosis
783242003	Dystonia 23	Adult-onset cervical dystonia DYT23 type
783160006	AGel amyloidosis	AGel amyloidosis
763797003	Proud syndrome	Agenesis of corpus callosum and abnormal genitalia syndrome
80651009	Aicardi syndrome	Aicardi's syndrome
81854007	Alexander disease	Alexander's disease
788417006	Moynahan syndrome	Alopecia, epilepsy, intellectual disability syndrome Moynahan type
770941005	ANE syndrome	Alopecia, progressive neurological defect, endocrinopathy syndrome
238048001	Schindler disease	Alpha-N-acetylgalactosaminidase deficiency
398229007	Andrade syndrome	Amyloid polyneuropathy type I
702439002	Charlevoix disease	Andermann syndrome
76880004	Angelman syndrome	Angelman syndrome
389098007	Anoxic encephalopathy	Anoxic encephalopathy
23501004	Argininemia	Arginase deficiency
702441001	Arts syndrome	Arts syndrome
68504005	Louis-Bar syndrome	Ataxia-telangiectasia syndrome
789657008	CLN12 disease	ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
95643007	Autoimmune encephalitis	Autoimmune encephalitis
784391002	Finkel disease	Autosomal dominant adult-onset proximal spinal muscular atrophy
717336005	Kjer optic atrophy	Autosomal dominant optic atrophy classic form
230553002	HSAN I	Autosomal dominant sensory neuropathy
230263009	Silver disease	Autosomal dominant spastic paraplegia type 17
782670003	Strumpell disease	Autosomal dominant spastic paraplegia type 3
782721009	Salih ataxia	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
764686003	Kjellin syndrome	Autosomal recessive spastic paraplegia type 15
764734003	Mast syndrome	Autosomal recessive spastic paraplegia type 21
726608002	Lison syndrome	Autosomal recessive spastic paraplegia type 23
91952008	Azorean disease	Azorean disease
21634003	BFLS	Borjeson-Forssman-Lehmann syndrome
720576001	Rajab syndrome	Brain calcification Rajab type
718210003	Brunner syndrome	Brunner syndrome
230253001	Kennedy syndrome	Bulbospinal neuronopathy
726031001	CAMOS syndrome	CAMOS syndrome
416824008	Cavernous hemangioma	Cavernous haemangioma
722385008	CEDNIK syndrome	CEDNIK syndrome
717332007	Cayman ataxia	Cerebellar ataxia Cayman type
788882003	Cerebral ischemic stroke due to global hypoperfusion with watershed infarct	Cerebral ischaemic stroke due to global hypoperfusion with watershed infarct
16517004	Cerebral lipidosis	Cerebral lipidosis
398040009	HSMN, type I	Charcot-Marie-Tooth disease, type I
699307007	Chromosome 16p11.2 deletion syndrome	Chromosome 16p11.2 deletion syndrome
21086008	Cokayne syndrome	Cockayne syndrome
None	COL4A1 or COL4A2-related disorder	COL4A1 or COL4A2-related disorder
702363009	Crisponi syndrome	Cold-induced sweating syndrome
35691006	Goldberg syndrome	Combined deficiency of sialidase AND beta galactosidase
41040004	Complete trisomy 21 syndrome	Complete trisomy 21 syndrome
438583008	Congenital bilateral perisylvian syndrome	Congenital bilateral perisylvian syndrome
398696001	Congenital pigmented melanocytic naevus	Congenital pigmented melanocytic naevus
718610008	Norman disease	Congenital pontocerebellar hypoplasia type 1
128206006	HSAN V	Congenital sensory neuropathy with selective loss of small myelinated fibres
764946008	CMMR-D (constitutional mismatch repair deficiency) syndrome	Constitutional mismatch repair deficiency syndrome
253153000	Cortical dysplasia	Cortical dysplasia
783179009	Dystonia 24	Cranio-cervical dystonia with laryngeal and upper limb involvement
725097006	Crisponi syndrome	Crisponi syndrome
722381004	Crome syndrome	Crome syndrome
773230003	CDKL5 (cyclin-dependent kinase-like 5) deficiency	Cyclin-dependent kinase-like 5 deficiency
733094005	Pierquin syndrome	Dandy-Walker malformation with postaxial polydactyly syndrome
111499002	HSMN III	Déjérine-Sottas disease
40354009	De Lange syndrome	De Lange syndrome
68116008	Haw river syndrome	Dentatorubropallidoluysian degeneration
70694009	DIDMOAD syndrome	Diabetes mellitus AND insipidus with optic atrophy AND deafness
52186006	Sialidosis, type 2	Dysmorphic sialidosis
81896006	Nephrosialidosis	Dysmorphic sialidosis with renal involvement
722435003	Dystonia 16	Dystonia 16
702448007	Dystonia 6	Dystonia 6
770431001	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
716107009	Waisman syndrome	Early onset parkinsonism and intellectual disability syndrome
None	EEF1A2-Related Neurodevelopmental Disorder	EEF1A2–Related Neurodevelopmental Disorder
723309006	ECO syndrome	Endocrine-cerebro-osteodysplasia syndrome
421455009	Episodic ataxia	Episodic ataxia
723306004	FOSMN syndrome	Facial onset sensory and motor neuronopathy syndrome
29159009	HSAN III	Familial dysautonomia
764522009	FFEVF - familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci
95656000	Möbius' syndrome I	Familial hemiplegic migraine
17231009	Fetal valproate syndrome	Fetal valproate syndrome
36025004	Pringle tumor	Fibrous skin tumour of tuberous sclerosis
782754006	FHONDA syndrome	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
702450004	FOXG1 syndrome	FOXG1 syndrome
716108004	Fryns macrocephaly	Fryns macrocephaly
192782005	Krabbe disease	Galactosylceramide beta-galactosidase deficiency
721297008	Galloway syndrome	Galloway Mowat syndrome
87191000119100	Ganglioglioma	Ganglioglioma
50967008	Gangliosidosis	Gangliosidosis
721843003	GAPO syndrome	GAPO syndrome
782690007	Gemignani syndrome	Gemignani syndrome
445252005	De Vivo disease	Glucose transporter protein type 1 deficiency syndrome
238025006	GM1 gangliosidosis	GM1 gangliosidosis
33316007	GM2 gangliosidosis	GM2 gangliosidosis
763597000	Hereditary ataxia	Hereditary ataxia
45639009	HCHWA	Hereditary cerebral amyloid angiopathy, Icelandic type
782911008	Hereditary cryohydrocytosis with reduced stomatin	Hereditary cryohydrocytosis with reduced stomatin
724351008	Kok disease	Hereditary hyperekplexia
62985007	HSAN IV	Hereditary insensitivity to pain with anhidrosis
398100001	HSMN	Hereditary motor and sensory neuropathy
128203003	HMSN VI	Hereditary motor and sensory neuropathy with optic atrophy
128204009	HSMN VII	Hereditary motor and sensory neuropathy with retinitis pigmentosa
43532007	Amyloidosis VII	Hereditary oculoleptomeningeal amyloid angiopathy
128205005	HSAN	Hereditary sensory and autonomic neuropathy
39912006	Strumpell disease	Hereditary spastic paraplegia
58756001	Huntington chorea	Huntington's chorea
93559003	Kallman syndrome	Hypogonadism with anosmia
721846006	4H syndrome	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome
230791000	Hypothalamic neuronal hamartoma	Hypothalamic neuronal hamartoma
703300001	Hypoxic ischemic encephalopathy	Hypoxic ischaemic encephalopathy
58258004	Santavuori disease	Infantile neuronal ceroid lipofuscinosis
724227000	Ohaha syndrome	Infantile onset spinocerebellar ataxia
722455002	Da Silva syndrome	Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
722006004	Kawashima syndrome	Isotretinoin-like syndrome
716997004	Joubert syndrome	Joubert syndrome
721847002	COACH syndrome	Joubert syndrome with congenital hepatic fibrosis
721862000	Arima syndrome	Joubert syndrome with oculorenal defect
721873007	Varadi syndrome	Joubert syndrome with orofaciodigital defect
None	KCNH1-related epileptic encephalopathy	KCNH1-related epileptic encephalopathy
None	Autosomal dominant KCNK4-related disease	KCNK4-related neurodevelopmental disease
778001003	KCNQ2-related neonatal epileptic encephalopathy	KCNQ2-related epileptic encephalopathy
22053006	Klinefelter syndrome	Klinefelter syndrome
54280009	SMA3	Kugelberg-Welander disease
716996008	L1 syndrome	L1 syndrome
237961001	L-2-HGA	L-2(OH) glutaric aciduria
719430008	Leber plus disease	Leber plus disease
29570005	Leigh disease	Leigh's disease
79385002	Lowe disease	Lowe syndrome
69463008	ARSB deficiency	Maroteaux-Lamy syndrome
722380003	Martsolf syndrome	Martsolf syndrome
838441009	MASA syndrome	MASA syndrome
703536004	Infantile leukoencephalopathy and megalencephaly	Megalencephalic leucoencephalopathy with subcortical cysts
59178007	Menkes disease	Menkes kinky-hair syndrome
770643005	Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis
702816000	Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
4945003	Microgyria	Microgyria
766987006	Moebius syndrome	Moebius syndrome
763895001	Myosclerosis	Myosclerosis
784346006	Navajo neuropathy	Navajo neurohepatopathy
261808007	Neonatal cerebral hemorrhage	Neonatal cerebral haemorrhage
52767006	Neonatal hypoglycemia	Neonatal hypoglycaemia
371121002	Neonatal stroke	Neonatal stroke
724091002	Elejalde disease	Neuroectodermal melanolysosomal disease
92824003	NF1	Neurofibromatosis type 1
92503002	NF2	Neurofibromatosis type 2
42012007	Neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis
703526007	Northern epilepsy	Neuronal ceroid lipofuscinosis 8
158094009	Non-accidental injury to child	Non-accidental injury to child
773737004	Goldston syndrome	NPHP3-related Meckel-like syndrome
722056009	Oculocerebrofacial syndrome Kaufman type	Oculocerebrofacial syndrome Kaufman type
763861000	Kuzniecky syndrome	Pachygyria, intellectual disability, epilepsy syndrome
715564000	Dystonia 9	Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity
1003447007	Null syndrome	Pelizaeus-Merzbacher disease null syndrome
722929005	Perinatal arterial ischemic stroke	Perinatal arterial ischaemic stroke
230769007	Periventricular leucomalacia	Periventricular leucomalacia
719139003	Pettigrew syndrome	Pettigrew syndrome
None	PHF21A-related disorder	PHF21A-related disorder
237612000	Herrmann syndrome	Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
25362006	HMSN IV	Phytanic acid storage disease
723452007	PHARC syndrome	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
702356009	PPM-X syndrome	PPM-X syndrome
770678005	PEHO-like syndrome	Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome
442511009	PEHO syndrome	Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
20415001	Poliodystrophy	Progressive sclerosing poliodystrophy
23150001	Proteus syndrome	Proteus syndrome
888801000000105	Protocadherin 19 mutation analysis	Protocadherin 19 mutation analysis
765142003	Proximal 16p11.2 microduplication syndrome	Proximal 16p11.2 microduplication syndrome
771263004	Tucker syndrome	Ptosis and vocal cord paralysis syndrome
734434007	Pyridoxine-dependent epilepsy	Pyridoxine-dependent epilepsy
772225005	RAB18 deficiency	RAB18 deficiency
702323008	Dystonia 12	Rapid onset dystonia parkinsonism
703542000	Knobloch syndrome	Retinal detachment and occipital encephalocoele
68618008	Rett's disorder	Rett's disorder
723999009	RHYNS syndrome	RHYNS syndrome
2355008	Rud syndrome	Rud's syndrome
254092004	Conorenal syndrome	Saldino-Mainzer dysplasia
23849003	O variant	Sandhoff disease
253159001	Schizencephaly	Schizencephaly
29145002	Burton syndrome	Schwartz-Jampel syndrome
778002005	SCN2A encephalopathy	SCN2A encephalopathy
721207002	SESAME syndrome	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
230437002	Severe myoclonic epilepsy in infancy	Severe myoclonic epilepsy in infancy
38795005	Sialidosis	Sialidosis
723675006	Sialidosis type 1	Sialidosis type 1
75968004	Soto syndrome	Sotos' syndrome
128212001	SMA2	Spinal muscular atrophy, type II
711158005	Asidan ataxia	Spinocerebellar ataxia type 36
768666006	STXBP1-related early-onset encephalopathy	STXBP1 encephalopathy with epilepsy
111385000	TSD	Tay-Sachs disease
71253000	AB variant	Tay-Sachs disease, variant AB
719947004	Temtamy syndrome	Temtamy syndrome
9527009	Tetrasomy 12p	Tetrasomy 12p
127295002	Traumatic brain injury	Traumatic brain injury
7199000	Epiloia	Tuberous sclerosis syndrome
719824001	Vici syndrome	Vici syndrome
46659004	Lindau' disease	Von Hippel-Lindau syndrome
715215007	Chromosome 11p13 deletion syndrome	WAGR syndrome
772224009	Micro syndrome	Warburg micro syndrome
88518009	Wilson disease	Wilson's disease
763400005	Cowchock syndrome	X-linked Charcot-Marie-Tooth disease type 4
698279003	Lubag	X-linked dystonia parkinsonism
719136005	OPHN1 syndrome	X-linked intellectual disability with cerebellar hypoplasia syndrome
725163002	X-linked spasticity, intellectual disability, epilepsy syndrome	X-linked spasticity, intellectual disability, epilepsy syndrome