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Familial infantile myoclonic epilepsy(FIME)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Epilepsy, Myoclonic, Infantile; FIME
SNOMED CT: Familial infantile myoclonus epilepsy (784342008); FIME - familial infantile myoclonic epilepsy (784342008); Familial infantile myoclonic epilepsy (784342008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): TBC1D24 (16p13.3)
Monarch Initiative: MONDO:0011506
OMIM®: 605021
Orphanet: ORPHA352582

Disease characteristics

Excerpted from the GeneReview: TBC1D24-Related Disorders
TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies. [from GeneReviews]
Bettina E Mucha  |  Raoul CM Hennekam  |  Sanjay Sisodiya, et. al.   view full author information

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
Concept ID:
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
Concept ID:
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Muscle fibrillation
MedGen UID:
Concept ID:
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Bilateral tonic-clonic seizure
MedGen UID:
Concept ID:
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Limb ataxia
MedGen UID:
Concept ID:
A kind of ataxia that affects movements of the extremities.
Focal-onset seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Gait ataxia
MedGen UID:
Concept ID:
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Impaired tandem gait
MedGen UID:
Concept ID:
Reduced ability to walk in a straight line while placing the feet heel to toe.
Intellectual disability
MedGen UID:
Concept ID:
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.
Generalized myoclonic seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial infantile myoclonic epilepsy
Follow this link to review classifications for Familial infantile myoclonic epilepsy in Orphanet.

Professional guidelines


Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
von Wrede R, Helmstaedter C, Surges R
Clin Drug Investig 2021 Mar;41(3):211-220. Epub 2021 Feb 9 doi: 10.1007/s40261-021-01003-y. PMID: 33559102Free PMC Article
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators
Epileptic Disord 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. PMID: 32096470

Recent clinical studies


Shao Q, Shi X, Ma B, Zeng J, Zheng A, Xie W
Epilepsy Res 2022 May;182:106923. Epub 2022 Apr 8 doi: 10.1016/j.eplepsyres.2022.106923. PMID: 35413638
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
Am J Hum Genet 2010 Sep 10;87(3):365-70. Epub 2010 Aug 19 doi: 10.1016/j.ajhg.2010.07.020. PMID: 20727515Free PMC Article


Shao Q, Shi X, Ma B, Zeng J, Zheng A, Xie W
Epilepsy Res 2022 May;182:106923. Epub 2022 Apr 8 doi: 10.1016/j.eplepsyres.2022.106923. PMID: 35413638
Ragona F, Castellotti B, Salis B, Magri S, DiFrancesco JC, Nardocci N, Franceschetti S, Gellera C, Granata T
Seizure 2017 Apr;47:71-73. Epub 2017 Mar 6 doi: 10.1016/j.seizure.2017.03.003. PMID: 28292732
Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD
Epilepsy Res 2013 Jul;105(1-2):240-4. Epub 2013 Mar 19 doi: 10.1016/j.eplepsyres.2013.02.005. PMID: 23517570
Striano P, de Falco FA, Minetti C, Zara F
Epilepsia 2009 May;50 Suppl 5:37-40. doi: 10.1111/j.1528-1167.2009.02118.x. PMID: 19469844
de Falco FA, Majello L, Santangelo R, Stabile M, Bricarelli FD, Zara F
Epilepsia 2001 Dec;42(12):1541-8. doi: 10.1046/j.1528-1157.2001.26701.x. PMID: 11879364


Shao Q, Shi X, Ma B, Zeng J, Zheng A, Xie W
Epilepsy Res 2022 May;182:106923. Epub 2022 Apr 8 doi: 10.1016/j.eplepsyres.2022.106923. PMID: 35413638

Clinical prediction guides

Shao Q, Shi X, Ma B, Zeng J, Zheng A, Xie W
Epilepsy Res 2022 May;182:106923. Epub 2022 Apr 8 doi: 10.1016/j.eplepsyres.2022.106923. PMID: 35413638
Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G
Epilepsy Res 2015 Mar;111:72-7. Epub 2015 Jan 25 doi: 10.1016/j.eplepsyres.2015.01.008. PMID: 25769375

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