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1 ons, in 49 unrelated patients diagnosed with episodic ataxia.
2 progressive cerebellar ataxia in addition to episodic ataxia.
3 ount for the majority of identified cases of episodic ataxia.
4 tiffness, seizures, headache, dyskinesia, or episodic ataxia.
5 eizures and in a French Canadian family with episodic ataxia.
6 -ocular, manifestations within a family with episodic ataxia.
7 ed segmental spinal myoclonus and autoimmune episodic ataxia.
8  underlying the inherited movement disorder, Episodic Ataxia 1 (EA1).
9 ncontrolled movements and recapitulating the episodic ataxia-1 (EA1) symptoms in human patients.
10 al diseases as familial hemiplegic migraine, episodic ataxia-2, and spinocerebellar ataxia 6 and also
11 nt disorders in CASPR2 autoimmunity (14.6%): episodic ataxia (6.7%), paroxysmal orthostatic segmental
12 also studied a series of 17 individuals with episodic ataxia accompanied by epilepsy and/or clearly e
13 on disease), the spinocerebellar ataxias and episodic ataxias, amyotrophic lateral sclerosis, benign
14             All 20 patients had a history of episodic ataxia and 19 had neuromyotonia.
15 le clinical entity characterized by frequent episodic ataxia and downbeat nystagmus, similar to the p
16 /Q-type channel function are associated with episodic ataxia and epilepsy.
17  as in a series of 53 patients with familial episodic ataxia and hemiplegic migraine to investigate t
18 and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked t
19                                              Episodic ataxia and myokymia syndrome is an autosomal do
20 esia, paroxysmal non-kinesigenic dyskinesia, episodic ataxia and myotonia and we identified a novel P
21 ne or episodic ataxia, one SLC2A1 family had episodic ataxia and one PNKD family had familial hemiple
22 strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal
23  including epilepsy, kinesigenic dyskinesia, episodic ataxia, and migraine.
24                                      Primary episodic ataxias are autosomal dominant channelopathies
25 cs of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migrai
26 evidence of phenotypic convergence; notably, episodic ataxia can be caused by mutations of either cal
27 0-14), but was only 2 in those with isolated episodic ataxia compared with 7.7 in those with progress
28              In addition, some patients with episodic ataxia complicated by epilepsy have been shown
29 er group of dominantly inherited ataxias are episodic ataxias due to ion channel mutations.
30                                              Episodic ataxia (EA) is an inherited disease that leads
31 l Kv1.1 containing mutations responsible for episodic ataxia (EA), a human inherited neurological dis
32                         Patients with Type 6 episodic ataxia (EA6) have mutations of the excitatory a
33                                              Episodic ataxia is an autosomal dominant ion channel dis
34 ssociated with epilepsy, multiple sclerosis, episodic ataxia, myokymia, and cardiorespiratory dysregu
35 otentially related to the pathophysiology of episodic ataxia/myokymia, a disease associated with miss
36               We studied a mutation found in episodic ataxia of the dual-function glutamate transport
37 mily, indicates that all patients manifested episodic ataxia of varying severity.
38 ions were in familial hemiplegic migraine or episodic ataxia, one SLC2A1 family had episodic ataxia a
39 at do epilepsy, migraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperther
40 portant for neurological diseases related to episodic ataxia, such as hemiplegia, migraine, and epile
41 mus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical feature
42 rrelations, pathophysiology and treatment of episodic ataxia syndromes.
43                  While clinically similar to episodic ataxias, there are currently no genes identifie
44  the brain that cause disorders ranging from episodic ataxia to epilepsy.
45 er of individuals with genetically confirmed episodic ataxia type 1 (21%) had accumulated persistent
46                                              Episodic ataxia type 1 (EA-1) is a neurological disorder
47 channel gene Kv1.1 are associated with human episodic ataxia type 1 (EA-1) syndrome characterized by
48 voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy.
49 e of human Kv1 channel mutations to myokymia/episodic ataxia type 1 (EA1) and the Shaker mutant pheno
50                                              Episodic ataxia type 1 (EA1) is a rare autosomal dominan
51                                              Episodic ataxia type 1 (EA1) is an autosomal dominant ce
52                                              Episodic ataxia type 1 (EA1) is an autosomal dominant ne
53 ster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains
54 ion mutations in the KCNA1(Kv1.1) gene cause episodic ataxia type 1 (EA1), a neurological disease cha
55        Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder ch
56 ed with the human autosomal dominant disease episodic ataxia type 1 (EA1).
57 sing these two parameters, the patients with episodic ataxia type 1 and controls could be clearly sep
58 spective study of both genetically confirmed episodic ataxia type 1 and episodic ataxia type 1 phenoc
59 is, since it can differentiate patients with episodic ataxia type 1 from normal controls with high se
60                A heterozygous mouse model of episodic ataxia type 1 harboring a dominant Kv1.1 mutati
61                                              Episodic ataxia type 1 is a neuronal channelopathy cause
62                                              Episodic ataxia type 1 is caused by missense mutations o
63                                              Episodic ataxia type 1 is considered a rare neuronal ion
64                                              Episodic ataxia type 1 phenocopies have not been describ
65 tically confirmed episodic ataxia type 1 and episodic ataxia type 1 phenocopies provides detailed bas
66                                              Episodic ataxia type 1 presents with brief episodes of c
67 ormed on patients with genetically confirmed episodic ataxia type 1 to characterize the effects of K(
68 e than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mut
69 owest (41.3) in those with mutation positive episodic ataxia type 1.
70 dentify K(v)1.1 dysfunction in patients with episodic ataxia type 1.
71  same protein cause the neurological disease episodic ataxia type 1.
72 cerebellar ataxia type 6 (SCA6) and one with episodic ataxia type 2 (EA-2).
73 2.1 channel complex, are well-known to cause Episodic Ataxia type 2 (EA2) and Familial Hemiplegic Mig
74                     Humans with the disorder episodic ataxia type 2 (EA2) and the tottering mouse mut
75      We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four-nucleotide
76                                              Episodic ataxia type 2 (EA2) is a dominantly inherited d
77                                              Episodic ataxia type 2 (EA2) is a hereditary cerebellar
78 netically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a muta
79 ns in the human CaV2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited dis
80                                           In episodic ataxia type 2 (EA2), physical or emotional stre
81 Q-type) voltage-gated Ca(2+) channel include episodic ataxia type 2 (EA2).
82 subunit of the P/Q calcium channel, underlie episodic ataxia type 2 (EA2).
83 t are associated with the cerebellar disease episodic ataxia type 2 (EA2).
84 channel is associated with both epilepsy and episodic ataxia type 2 in human beings.
85                                              Episodic ataxia type 2 is a prototypical episodic vertig
86                                              Episodic ataxia type 2 is caused by mutations in CACNA1A
87 e evaluated several members of a family with episodic ataxia type 2 linked to chromosome 19p by using
88              Steroid hormones may affect the episodic ataxia type 2 phenotype by modulation of voltag
89                        Cav2.1 dysfunction in episodic ataxia type 2 thus has unexpected effects on ax
90 rom five families with genetically confirmed episodic ataxia type 2 underwent neurophysiological asse
91  with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A
92           Clinical observation suggests that episodic ataxia type 2, a P/Q calcium channelopathy, may
93 discovery that familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type
94 lcium channel (familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia 6, and La
95 EAAT1) have been identified in patients with episodic ataxia type 6 (EA6).
96 tion, which was identified in a patient with episodic ataxia type 6 and that predicts the substitutio
97  genetic loci is slowly expanding, now up to episodic ataxia type 7.
98 ation F184C in Kv1.1 leads to development of episodic ataxia type I (EA1).
99                                              Episodic ataxia type-1 (EA1) is a dominant human neurolo
100 have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-in
101                                              Episodic ataxia type-2 (EA2) is an inherited movement di
102                                              Episodic ataxia type-2 (EA2) is caused by mutations in P

 
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